The gene LOC126862361, SLC12A3 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:56946332-56947531| solute carrier family 12 member 3) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Familial hypokalemia-hypomagnesemia