This mutation occurs in LOC126806068, RYR2 (BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610| ryanodine receptor 2) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1