rs121908107

This is a variant in the MYLK2 gene that changes a alanine to an valine.

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ClinVar annotation

Pathogenic★★★☆

5 submitters5 publications

Cardiomyopathy, hypertrophic, midventricular, digenic; Hypertrophic cardiomyopathy 1; not specified

About MYLK2

This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]

View all MYLK2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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