This variant affects gene LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7) located on Chromosome 14. Evaluate its biological effect and specify any disease association.
Pathogenic; MYH7-related skeletal myopathy