A variant on Chromosome 14 in gene LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Hypertrophic cardiomyopathy