The gene ATP2A2, LOC126861637 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2| MED14-independent group 3 enhancer GRCh37_chr12:110778306-110779505) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Acrokeratosis verruciformis of Hopf