The gene LOC126806068, RYR2 (BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610| ryanodine receptor 2) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1