Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_25300
This alteration occurs within gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Congenital myasthenic syndrome 16
GCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAG
GCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACTCGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAG
Task1_train_25301
Located on Chromosome 17, this mutation impacts GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Hyperkalemic periodic paralysis
CCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGA
CCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCGGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGA
Task1_train_25302
This genomic variant is located on Chromosome 17, within the GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; SCN4A-related disorder
CCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGA
CCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCGGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGA
Task1_train_25303
An alteration has been detected in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Hyperkalemic periodic paralysis
GGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAG
GGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGGGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAG
Task1_train_25304
This variant affects gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; SCN4A-related non-dystrophic myotonia
TCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGG
TCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGCGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGG
Task1_train_25305
The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Paramyotonia congenita of Von Eulenburg
TCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGG
TCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGCGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGG
Task1_train_25306
This alteration occurs within gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Hyperkalemic periodic paralysis
GCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGT
GCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCACGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGT
Task1_train_25307
This variant impacts the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; Potassium-aggravated myotonia
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCATCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
Task1_train_25308
A variant on Chromosome 17 in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Paramyotonia congenita of Von Eulenburg
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCATCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
Task1_train_25309
Given this variant in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Hypokalemic periodic paralysis, type 1
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCATCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
Task1_train_25310
Chromosome 17 houses a mutation in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Congenital myasthenic syndrome 16
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCATCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
Task1_train_25311
The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Hyperkalemic periodic paralysis
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCATCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
Task1_train_25312
The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Hypokalemic periodic paralysis, type 2
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCATCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
Task1_train_25313
This variant affects the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Hyperkalemic periodic paralysis
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCATCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
Task1_train_25314
An alteration has been detected in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Paramyotonia congenita of Von Eulenburg
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCATCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
Task1_train_25315
Assess the clinical impact of this variant on gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; SCN4A-related myopathy, autosomal recessive
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCATCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
Task1_train_25316
A genomic change on Chromosome 17 affects GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Congenital myasthenic syndrome 16
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCATCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
Task1_train_25317
A variant on Chromosome 17 in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; SCN4A-related disorder
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCATCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCA
Task1_train_25318
This variant affects the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Potassium-aggravated myotonia
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCACTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25319
Consider this mutation in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Hyperkalemic periodic paralysis
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCACTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25320
This alteration occurs within gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Paramyotonia congenita of Von Eulenburg
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCACTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25321
Given this variant in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Potassium-aggravated myotonia
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCACTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25322
Given a variant located on Chromosome 17 and affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Paramyotonia congenita of Von Eulenburg
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCACTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25323
A variant affecting Chromosome 17, within the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Congenital myopathy 22B, severe fetal
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCACTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25324
Here is a genetic alteration in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Congenital myopathy 22A, classic
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCACTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25325
An alteration has been detected in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Congenital myasthenic syndrome 16
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCACTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25326
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Hyperkalemic periodic paralysis
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCACTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25327
The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Hypokalemic periodic paralysis, type 2
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCACTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25328
Mutation context: Chromosome 17, Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Hyperkalemic periodic paralysis
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCTCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25329
A mutation in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Potassium-aggravated myotonia
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCTCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25330
Chromosome 17 houses a mutation in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Paramyotonia congenita of Von Eulenburg
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCTCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25331
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Hypokalemic periodic paralysis, type 1
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCTCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25332
Assess the clinical impact of this variant on gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Congenital myasthenic syndrome 16
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCTCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25333
A mutation found in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Hyperkalemic periodic paralysis
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCTCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25334
This is a variant in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), located on Chromosome 17. Is this mutation a likely cause of disease or not?
Pathogenic; Hypokalemic periodic paralysis, type 2
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCTCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25335
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Potassium-aggravated myotonia
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCTCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25336
With a mutation on Chromosome 17 in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Paramyotonia congenita of Von Eulenburg
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCTCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25337
A mutation on Chromosome 17 affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; SCN4A-related myopathy, autosomal recessive
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCTCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGG
Task1_train_25338
Given a variant located on Chromosome 17 and affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Paramyotonia congenita of Von Eulenburg
GACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTT
GACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAATTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTT
Task1_train_25339
A variant was discovered in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Congenital myopathy 22A, classic
CTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATC
CTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGAACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATC
Task1_train_25340
This variant affects gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Congenital myasthenic syndrome 16
TGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCC
TGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCGCTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCC
Task1_train_25341
This is a variant in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), located on Chromosome 17. Is this mutation a likely cause of disease or not?
Pathogenic; Hyperkalemic periodic paralysis
ATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGT
ATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGACGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGT
Task1_train_25342
This mutation occurs in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Hyperkalemic periodic paralysis
TCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAG
TCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGAGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAG
Task1_train_25343
A mutation found in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Inborn genetic diseases
TCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAG
TCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTCAGAGATGGAGGGACAAGGGGAGAATGCGGGACCGAGGAGAAGGGAGGGAAGGGGAGTGGGGATCAATGCTGTCTTGCAGCCTGTTTCTGGCTACTTTTCATCAACATCTCGCTGAGCCCTAGAGTAACCCACAAGGCAGGTTGTAGCAGCCTCGTCTTTTTTTTTGTTGTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAACCTCCATCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCTGCCACCACGCCTGGCTAATTTCTTTTTTTAATTTTTTTTGTATTTTTAGTATAGACAGGGTTTTACCACGTTAGCCAGGGTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCTGGCCCAGCAGTCTCATTTTACAGATAAGGACACCGAGGTTCATGGAGGCCAAGCCACTTGTTCAAGGTGGCCTGGTGGGACTGGGACCCAAGCTAGCTGCCTGAACCAACAACCTGGTAGGTGCTCAGGCAGCGTTTGTGGGTTTGTGCAATGGAGAGTGGACAAAGGAGGCAGGAGGGAGGCCCAGCACCGGGAGGGCCCGAGGGGCTGGGCTGATACTCATCTTCTTCTTCTGCTGGTTGAAGTTGTCAATGATGACGCCAATGAAGAGGTTGAGGGTGAAGAAGGAGCCAAAGATGATGAAGATGACAAAGTAGAGGTACATGTAGAGGTTCACCTCGTACTGCGGCTGCTCCTCCTTCTGTGGGAGCCACAGGGTGGGACGGCGTGGGTTTGCACGCTGGCTTCTCCCTGCCCCCCACAGCCCTGAGGGCAGGACCCATCCACCCCCAGGGCTGCCAAGTCTCGGGGACAGAACGTGCTGCCAAGTCTCCCTCCTGTCTTGAGTCCTCTTCCCTGGCTCGCTCACCAGCCACATCTCAGCGACCCCGACTCACCTCCCGGGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGAGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAG
Task1_train_25344
Gene SCN4A, GH-LCR (sodium voltage-gated channel alpha subunit 4| growth hormone locus control region) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Hyperkalemic periodic paralysis
GGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCA
GGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATTGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCA
Task1_train_25345
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Congenital myopathy 22A, classic
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGATGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
Task1_train_25346
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Potassium-aggravated myotonia
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGATGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
Task1_train_25347
An alteration has been detected in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Paramyotonia congenita of Von Eulenburg
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGATGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
Task1_train_25348
This genomic variant is located on Chromosome 17, within the GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Congenital myopathy 22B, severe fetal
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGATGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
Task1_train_25349
The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Hypokalemic periodic paralysis, type 2
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGATGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
Task1_train_25350
Chromosome 17 houses a mutation in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Congenital myasthenic syndrome 16
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGATGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
Task1_train_25351
This variant lies on Chromosome 17 and affects the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Hyperkalemic periodic paralysis
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGATGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
Task1_train_25352
This variant impacts the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; Hypokalemic periodic paralysis, type 2
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGATGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
Task1_train_25353
A variant was discovered in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Hyperkalemic periodic paralysis
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGATGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTT
Task1_train_25354
A sequence alteration has been identified in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it disease-inducing or harmless?
Pathogenic; not specified
CCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTTGCTCCCTGA
CCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCTGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTTGCTCCCTGA
Task1_train_25355
The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Hypokalemic periodic paralysis, type 2
CCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTTGCTCCCTGA
CCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCTGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTTGCTCCCTGA
Task1_train_25356
With a mutation on Chromosome 17 in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Hyperkalemic periodic paralysis
CCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTTGCTCCCTGA
CCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCTGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTTGCTCCCTGA
Task1_train_25357
This is a variant in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), located on Chromosome 17. Is this mutation a likely cause of disease or not?
Pathogenic; Hyperkalemic periodic paralysis
CAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCGCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTTGCTCCCTGAA
CAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACCTGCAGGAGGGAGAGGTAGCCCAGACCCACGTTGTCGTAGTTGACCTTGACATTGAGCCAGCGGACCTGGCCTGTGTGCATGAGGCTCTCGCACTCAGACTTGTTGTTGACCTCGGAGATGTCGAACCTCTCAGAGGTGGTGGTGTTGATGCAGTAGTAGAACTTGCCGGCAAACAGGTTGACACCCATGATGCTGAAGATCAGCCAGAAGATGAGGCAGACAAGCAGCACATTCATGATGGAGGGGATGGCGCCTAGGAGGGCGTTCACCACCACCTGGGGGCCAGGGGGTCCATTGCCAGTGCCTCTCCCAGCCTCTGAGAGAGGGCTCCACATCTCTACGCCACCCAGGGGACCAGGCAGAGCTGGGCATTGTCAATTAGGGAGGGCTTCCTAGAGGAGGGCCGACCTGCTGGGCTGTGTGTGTGCAGGTTGGGGGTGGTAAGGGGGAGGGGGAGGGAGCTGCAGGCCTGGTGGTCAAGAGGGCTCTCTGCTTGACTGGAGCCATCAGCCCAGAGTAGGGGTGCTGGGTTTCTCTGGAAGCAGCCTGGTCACAGGTCACCAGGCAGGAGACAAACACTCTTTGCTCAGCCCCCATAGGAAACTCAGCTCACGTGACCCAGCCCCTGCTCATGGGTTTTCAGCCCCAGAGCCCCAGACACAGGCACAGAAAAGAGGGCACCAGGGTCTTTGAAGCAGCAGGAGCTCTGGGACAGAAGCCCCATCCCCACCAGCCCTAGTCACACAGCCCACCTGACCACTGCAGACTGGGCTGGATCTGACACCCCTCTCTTTTTAAGGAGGAGCCATTTCATGACCTCTAGAGTGGGTGGCACAAGCCTGGTGTGCCCAGGGGAGCTCTGTTCCTGGTTGGGGCACTGACCAGCTGCATGGCCACAGGCAGCTTGTTTCCCCTCAACGGGAGGGCTCCCTGGCTCTGGGGGGTCAGAGGGCCCAGCATTCGGCTGGCCTCTTGCAGGGACAGGAAGGGGCCGCTTGGGGGGGCTCGCCATGGCCTCTAGATTTGCAGAAATTTGTCCCGCTGGAGCAGGTCTTGCTCCCAGCAGATCTCTCTTCCTGGGGAAGTCCCATTTTTCTTGCCCCCCCCCCCACCCCGCCGCAACCCTGTGTTTACCTGCCACTTCCGCTCTCCAGGGCCTGAGTGGATCTTCCCCAAACTGACCCCAAGCTCAAGGGCATGGCCCCAACCGTGACGCCAAGCTCATCAGTGGGGGGTGAGGGGAAGGCTCAGAGCCAGGGTGCAGGCACCTTGTTTCAAAGCCCTGGGTGGCTCAGTCTGAGGCTGGGGAGGGCCACCCATAAACCCACTCATAAACCACCCATAAACACCACATAAACCTGCCTTCCTTCCTCCTCTTCCCTGGCCGTGGGGCCCTCCTGGGTGCTTCTGCAGTCTCTGCTCCCCTCAAGTAGTGGCAGAGGTAAGCTAAGGGCGGGCTGGATCGGGGGCTGAGAGTGGGAATGGGGCAGGCAGAAGATGGCCTGCGGGGAGGACAGCTAGGGGAGGTGGGGGCCAGACCTGGCCTCAGGCAGGGCCGTGGGTCCAAGCTCTCTGCTTCCCTCTGGTGGTGGTTGGAGTATAGACATGCACCCTCCACCCTGCAGTGAAGGTGGCCGGTCCCCCATCCCCAGCCCACCCCAGAGGCCCCTTCAGCACCCACCCTCATGCCCTCGAATCGGGACAGTGCCCTCAGGGGACGCAGGGCCCCCAGTGTCCGCAGGGATTTGATGGGTCCCAGCTCCGAGTAGCCCAGCCAGTTGGCCACCAAGCTGATGATGGAGACCTGCAGGGGAGGGGTGAGGGGATCAGTGCGTGCAAGGCCCCCAGCCTCCCCTCAAGCCCAGGCCACGGGGGTCTTCCTGGACTCACAGCTCCTGGTTGTCTCCCTTAGATCCCCTCCCTAGTGGGTGGTCCTGTCCGGTGGGAAGAGCAGCCCTGGGACCTGTCCCAGTACCTGTAGGAGCCTGGCACCACCTCAGTGATGTCATCAACCAACTGGGGATGACTGTGAGTAGGAGGGATGGTACCCGACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCCTGGGCAGCTCTGTCTGAGAAGGGCAGCACTGATTGAGGGTCTGACTCTGGGGGTGGCCTCGGGCAGGTCCTGCCCTTCAGGGCGTGGGCTTCCTGAGGTCCCCGCCACACTGACAGCCTCTGGATGTAGCTACGGGGCCAGCGTGGGGGGACTCACATCCACGATGAGGAAGTCGAGCCAGCACCAGGCGTTGGTGAAGTACACCTTAAAGCCGTAGGCCACCCATTTGAGCAGCATCTCCATGATGAAGATGTAGGTGAAGACCTTGTCGGCATATTCTAGGATGGTGCGAATGACTCGCCGCTGCTCAATGTAGATGTCCTCGAAGGCCTGGGGGCACCAGCACCACCAGGGTGGCTGGGGTCCAGCAGGCTGGGGTGGCAGCCAGGTCCCCTGCCCTGCTCTATGCTGCTGGTTCCCGGGGGTCTGCCGTGGGGGCCCAGCCCAAGGGACAGGCTGTCCGCATCTCCTGGACTCCCACCACCCATCATGGGGATGAGAGCGTTTCCCAGTGGGGAGAATCCCTCAGCCCCCCTTCTCCAAGCCCAACAACAGCAAATTGCCATCATCTGCTGGGCAGGTCCACAGTGACACATCTTCAGTCCTGCGCCCCCAGTTCCCAGGGGTCTCCTGCCTCCTTATCAGCAGAGAGTGCACAAAAGTCAGCACCCACGTAATAAGGGAGGCACCTCTGCCATGTTAGAAAGTCAGCACATCCTATAACCTATCCCGGAGGCACAGCGAGTTCCTTTAGGATTCTCAGGGTTTGGGACTGACCAGAGCATGGCCCTTCCTGTGTGTGGAGACAGGGAGCCCCAAGAGGACCTGCTGTGGGCCTGGCCCCTGCCCCTGACCCGTGCTCCCAGGCAGTGCCTACCAGAGCCCCACTGCTGAGCAGGATCATGAAGACAATGAAGGTCTCGAACCAGTTGTGCTCGACAATCTTGAAGCAGGCCCTGCGCAGAGTCCACCACTTCTTCCCACGGCCCTGGGAGATGTCCACGTAGAGGCAGGGCCAGCGCTGCACGCAGGCTGATGGGGTGAGGGGGGACAGGGACAGGCACCACATCATGGGCCTGGGGTTGCCTTGGGGTGCACAGTCAGCGCCCTCCCATGGCATCCCAGGATGCCCCTCTCCAGCTCCCAGACCCAGGGCCCCCACCTCCTCCCTCACCCAGCTCCATCTGGCTCACATGGGGGACTCAGGACCTCCCTTCACAGCTGGATCCAACATGCGTCAATGGCTGCTGGGGATGGGCATGCAGAGGAAAGGCCTCCTGGCCCCCAGCCCCAGTGCTGCCCCACCCCCCACCTCGCCCAGGCGGTCTCCATCCTGCACAGCCCAGCAAGCTCTATGGACAAGGACATTTCTCCAGTGCCATGTCCTGAAGGCCTTGCTCCCTGAA
Task1_train_25358
This is a variant in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), located on Chromosome 17. Is this mutation a likely cause of disease or not?
Pathogenic; Hyperkalemic periodic paralysis
GAACCTAAACCAGCACTGCCCTGCCGCACGCCTGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAG
GAACCTAAACCAGCACTGCCCTGCCGCACGCCTGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGGGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAG
Task1_train_25359
The variant affects gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Hyperkalemic periodic paralysis
GAACCTAAACCAGCACTGCCCTGCCGCACGCCTGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAG
GAACCTAAACCAGCACTGCCCTGCCGCACGCCTGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGTGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAG
Task1_train_25360
This gene mutation involves GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
Pathogenic; Sotos syndrome
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCATCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
Task1_train_25361
Here is a mutation in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Hypokalemic periodic paralysis, type 2
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCATCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
Task1_train_25362
A variant was discovered on Chromosome 17, affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Congenital myasthenic syndrome 16
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCATCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
Task1_train_25363
The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Hyperkalemic periodic paralysis
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCATCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
Task1_train_25364
A variant on Chromosome 17 in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Hypokalemic periodic paralysis, type 2
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCATCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
Task1_train_25365
This is a variant in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), located on Chromosome 17. Is this mutation a likely cause of disease or not?
Pathogenic; Potassium-aggravated myotonia
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCATCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
Task1_train_25366
A genetic alteration is present in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Paramyotonia congenita of Von Eulenburg
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCATCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
Task1_train_25367
A variant was discovered on Chromosome 17, affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Hypokalemic periodic paralysis, type 1
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCATCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
Task1_train_25368
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Hyperkalemic periodic paralysis
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCATCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
Task1_train_25369
Given a variant located on Chromosome 17 and affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; SCN4A-related disorder
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCATCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCG
Task1_train_25370
Given a variant located on Chromosome 17 and affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Hyperkalemic periodic paralysis
CACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAA
CACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAGTGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAA
Task1_train_25371
This sequence variant lies in SCN4A, GH-LCR (sodium voltage-gated channel alpha subunit 4| growth hormone locus control region) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Hyperkalemic periodic paralysis
CTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACT
CTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATCATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACT
Task1_train_25372
This sequence variant lies in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not provided
ACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTG
ACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGATCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTG
Task1_train_25373
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Hyperkalemic periodic paralysis
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCTGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
Task1_train_25374
Given a variant located on Chromosome 17 and affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Hypokalemic periodic paralysis, type 2
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCTGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
Task1_train_25375
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Potassium-aggravated myotonia
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCTGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
Task1_train_25376
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Congenital myopathy 22A, classic
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCTGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
Task1_train_25377
The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Congenital myopathy 22B, severe fetal
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCTGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
Task1_train_25378
This gene mutation involves GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
Pathogenic; Paramyotonia congenita of Von Eulenburg
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCTGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
Task1_train_25379
This sequence change occurs on Chromosome 17, altering GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Congenital myasthenic syndrome 16
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCTGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
Task1_train_25380
A variant on Chromosome 17 in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Hypokalemic periodic paralysis, type 2
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCTGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
Task1_train_25381
Mutation context: Chromosome 17, Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Hyperkalemic periodic paralysis
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCTGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
Task1_train_25382
The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Congenital myasthenic syndrome 16
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCTGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
Task1_train_25383
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Myopathy
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTCCTCTGTAGCTGCAGCATAGTCTTCTTCTGCAGCTGAGGTGACACCCCCTTCCCTCTCTTGGTGCTGCCCCCAGCCAGAGATCAGCAATATCTGAGAAGCTCTGTCGCTGCAGCTCAGGGATTCCATAGGCCTTTGGGGAACATGGGGACAGGCGTCTTCCCAGTCCCTGTTGCCCAGGGCAGCACCAGCCACTGCAGGGGGCAGCTGGGCACAGCACTGCAGGGCTCTGGCAGGAGTGACCTCCACTGCCACCCCAAGAAGGGGAGAAGTCAGGGTCACCTCCAGAGGCCCTAGCCGCAGAAATGCTGGCCAGCTGGACCATGGCCCTATACCCTGGCTCTCACCTCCTGGCCCCTTCCTCTGCACCAGCCCCTCATGCCAAGCCCTGAACCACAGTAAGCGGCAGAAGAGATGCAGTTTATGCCATCTCTGCATTTTCCCAATATCTGCACCTGTTTCTTTTTTGTTTTCTAGAGATGGGGTCTTGCTCTGCCCCCCCATGCTGGAGTGCAGTGGCAGGATCACAGCTCACTACAGCTTTGAAGTCCACGGCTCAAACCATCTTCCTGCCTCAGCCTCCCAAATAGCTGGGTTTGGTGTGTGCCACCATGCCTAGCTAATTTTTTTCATTTTTCCATTTTTTGTAGAGATAAGAGTGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTTGGCCTCCTAAAGTGCTGGGACTATGGGCATGAGCCACCACATCCAGCCTGATTCTCTTTTTCGGCGCCTGGACCATAGGCCCTGGAGCAGAGGAGGTCAAGAGGGTGGGAGAAGGCCAGGAGGCCCAGGTTCCCCCACAAAACTGTGCCTTTGTACACACTATGGCATCATCTTTGCAGTGACCTCATGAACTCCCTGTTGTTTTTCTTCTATGTGAGGGTTAGAGAACCCAGCTTGACTAGAGAGCAGCAGTTAGCTCAAGGTCACACAGATGATGGCAAAGGAGCTGGGACTGGAATGTGGGTCTGTCTGACTCATTATCATGTTGCTTTACTCAAAACACTAGGTTCCAACAGCGCTACTCATAGCATGGTCCCAGAACCACCATCAGCATCCACTGATCAGCATCACCTCGGAGCTTGTCAGAAATGCAGGTCCCCAGGCCTAGGCCCAGAGCTGCTGAATCAGACACTCTGGGGGTGGGGCCGGGGATCTATGTTTTAAGTAACTCCTAAGTGATTCTTACACAGGTTAAAATTTGAGAACTACGGGGTTAAACCACATAAAATTGCCATTTTGGAGAGGATGTGTTGGGGAGATAGAAAACAGTCAAATATCAGGTACATCTTGTACGCTTCCCGGGTGAGGGCAGGGGCCACCCAGCCAGCCTCACTCACCACAAGATTGCCGATGACCATGACCATGAGGAAGACGGTGAGGCACATGGCTTGGCCGGCCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCTGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCT
Task1_train_25384
This mutation is located in gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Hyperkalemic periodic paralysis
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGATGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
Task1_train_25385
Located on Chromosome 17, this mutation impacts SCN4A (sodium voltage-gated channel alpha subunit 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Hypokalemic periodic paralysis, type 2
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGATGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
Task1_train_25386
A variant was discovered on Chromosome 17, affecting SCN4A (sodium voltage-gated channel alpha subunit 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Potassium-aggravated myotonia
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGATGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
Task1_train_25387
A variant affecting Chromosome 17, within the gene SCN4A (sodium voltage-gated channel alpha subunit 4), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Paramyotonia congenita of Von Eulenburg
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGATGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
Task1_train_25388
Mutation context: Chromosome 17, Gene SCN4A (sodium voltage-gated channel alpha subunit 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Hypokalemic periodic paralysis, type 1
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGATGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
Task1_train_25389
This alteration occurs within gene SCN4A (sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Congenital myasthenic syndrome 16
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGATGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
Task1_train_25390
Given a variant located on Chromosome 17 and affecting SCN4A (sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Paramyotonia congenita of Von Eulenburg
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGATGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
Task1_train_25391
This mutation is located in gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Hyperkalemic periodic paralysis
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGATGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
Task1_train_25392
Gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Acetazolamide-responsive myotonia
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGATGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACG
Task1_train_25393
Given this variant in gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Hyperkalemic periodic paralysis
CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGA
CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACAGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGA
Task1_train_25394
Here is a mutation in SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Hypokalemic periodic paralysis, type 2
CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGA
CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACAGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGA
Task1_train_25395
The gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Hyperkalemic periodic paralysis
CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGA
CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACCGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGA
Task1_train_25396
Here is a variant affecting SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Hyperkalemic periodic paralysis
CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGA
CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACTGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGA
Task1_train_25397
A variant has been detected on Chromosome 17 in SCN4A (sodium voltage-gated channel alpha subunit 4). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Potassium-aggravated myotonia
CCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGATCAGG
CCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGTAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGATCAGG
Task1_train_25398
A genetic alteration is present in SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Hyperkalemic periodic paralysis
TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGATCAGGTGG
TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGTGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGATCAGGTGG
Task1_train_25399
This variant lies on Chromosome 17 and affects the gene SCN4A (sodium voltage-gated channel alpha subunit 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Hypokalemic periodic paralysis, type 2
TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGATCAGGTGG
TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAGGCCCAGGGACCACCACCCAAGGCAGCCCCAGCCTTAGGAGAAAGAACAGTGTCGAGTAGCTTGAATCTCCAGCCCCCCACACCATCTGAGTCCTCAGTGTGCCCTTCTGCTAAATGGGAACACTCATTCTACCACCTCAGGCCCTTCATGTGTTAAAAAGAAAACAAGTCCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACTTAAGCTCAGGAGCTGGAAACCAGCTTGGCTGACATGGTAAAATCCTGTCTCTACTAAAAATACAAAAAATTAGTCGGGCATGGTGGCGAGTGCCTGTAATCTCAGTTACTCAGGAGGCTTAGGAAGGAGAATCGCTTCAACCAGGGAGGTGGAGCTTGTAGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCTACAGAACAAAACTCCACTAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGAGAAAAAATGTCATTCGTCATTATCTGTTAAAGATACAGACTATGGCTGGGAGCAGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGAAGGTGCATCACTTGAGCCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCTGACCTACAAAAATTACAAAAATTAGCTAGGCATGGTGGTCCCACCTATGCAGGAGGCTGAGGTGGGAGAATCACCTGAGTCTGGGGAGGTCAAGGCTGCAGTGAGCAGTGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAAACCCTGTCTAAAAAAAAAAATACAGACTAAAGTATTTACAAGTGAAATTATATGTTGGGATTTGCTTTCACAATAAAAATTGGGGGACAGATGCAACAGGAATTGTAGAATGTTGATAGTTGTTGAAGCTGGGTGATAGGTACGTGGAGGTTCATTATACTTTCTCTATACTTTTGTGCATGCATGAAAAGATCCCTTGATAAAGTTTGTTGTTGTTGTTTTTTTTGAGACAGAGTCTCAATCTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCAAGCCCAGCTAATTTTTGTGTTTTTCGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACGCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGATAAAGTTTTAAAAAGAATAATAGTGCTCCTTATGGGGTGGTGAAAAGACAGAAATTCAGAGGTCCCAATCCTACTCCTAATGAACTTCCAGAGCCCCGGCTTTCAGGTCTGCAGTATGGGGCTGGAGTTCCTGCTCCACTGCTGCTCAAGGTCATTAAGGAATCAAACCCAGTGTTGGCCTCTGTCACTTGGGTCCCCCCAGCAGCCCTATGAAAGAAGACAGGGCTCTCCTTTTCTCTGTTTTACAGGTAAGAAAGGTTCTGAGAGGTAACAGGTGTGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGTGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCATGAGGCCCTGTCACAGAGCCTCGGGGAGCCCAGGGCCCTGGAAGTCTCCCACCCAACTCCCACCTCCTGGCAGAGGCTGCGGGGGCGGAGGGGAAGGGGTCCAGAGCCCTGAGAGGAGCAGGAGTGGCATGCATGGCCCGTGTGTGTATAAGTGAGTGATGGAGGCAAAGGCCAAGTCATAGGGCCTAGGTGGGTACAACTCTGAGACCCGTTCCCATTCATTTCTGGCCTTGTGACAGTGGGCAAGGCACTTCACTCCTTGGAGACCCAACCCTGTCATAATATTCAACATTTGCAGGGCGCTCTGTGGTTCACTTTGTGACTTCACTGGTATCCTGATCTCTACAATGTTGGGAGGGATTCTCACATGCATTCCACACATGAGCAGTTGAGGCTCAGCTAGCTGGGCAGCTAGCTGGCATCACAGCACCCACATGGGAACGAGCCACATCTCAAGCCCAGTTCTCAGGTGCTCAGTTCAGCATCCTGTCTGTATGCCTACAGCCTCTCCACAGGGACCACTCCCAGGATCTTGCAAATCTTGGCAGACTCAAAGGTTTAGGGCAGGGACCAAAAGGAGCAAAATCAGTGAGAAGAAGACCAGAGCTTCCCCTGCCAACCCTGGACATGGGATCTGAGGATTGCACAGTCCCTGAAAGCTCCCTGGGCACGGCCCCCCTCCTGCCAGGCACCAGCTGCCCTGGGTCCACAGCCTGCCTGGGCACATGCTGAGCCCCTCCCAGAGGCTGTCCCTGGCCACAGCAGGTGCCAAGGCAGCAGCATAGTGTGGGCAGGGGGTGGGCAAGCGGGCAGGCCCGGTCCATCACGCACATCCCAGCAGCTGTGCCACGAGTCCAGAGCACGCCCTTACCCTTCCAGCCCAGCCTGGCCATGGCTGCCTCGGCACCTCTATAGGACAGACGTGCCTGCCTCGAAGGCTGGGGAGCCCAGGGTTTGATTCTCGTGCCACCCACCCAGCCCTGGTTCTCTCCCAGACCCCAAATCTTACTCTCCCTGGCTTCCCCTAACCTTCAGGGTTGGGGAGCATCTCGCCCATTTGCCGTCCTGGAAAAATTGCAAAGGGAATTGGGAAGGGTGGGGCAGGGCTGGAGGAGGAGGCGGCTTTTCCCTTTGTCAGGCTCCTCTGGGGCCGGCAATGAGGTGATAATGCTCCTAATGGGCCTGGATAAGCGGGCGGATCAGTGGTGTCAACAATAGTGGAGCAGGAAAGGGCTGGAGAGAGGAGAAGCCTGGCCACGCTGGAGAAATAGGTGAGGGTTGGGGGAGTAACCCCTGCAGCCCACTGGTCCTGGGTAGCCAGGGCTATAGGTCACACTGCCAGATCCCTTGGCTCCTTTCAGGCCCATGACAACTTCTGGAAGTGGACAGACTTGTCAGCTAGCCCCTTCACCCCTATCTCCACACCCCCATTTCCTCACCCCTGCTTCCAGGGCATGGTCTGGATCCCAGATCCCCAAGAATCTGGACCTTAGGAAGCCCAGCGCCTCAACCCCATCTCCCTGCCCCTAAATGTCCTGAAACCCCAGTTCTGTGTGCCACAGATCACCCCAAGTACCCCCCCCCACATCAACTCATGCCTCCCATATGCTGGGAAAATAACCCCAGCTGTCCGCATGTGTCCCCCACCGTGCCCTATATTTACATACAGCCAGACAGCTCCACTGGGCCCTACCCCCTCCCATCCTGCCCATGAATGATCCCCTCCCCCGCCCCTCCCTACCAGGTTGCCCACAGTGAGCACGTTGTCAAAGTGCTCCGTCATGGGGTAATGTTCCATGGCCATGAAGAGGGTGTTGAGCACGATGCAGATGGTGATGCCCAGGTCCACGAACGGGTCCATGACGATCAGGTGG