rs117502839

This variant is located in the MYLK2 gene.

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ClinVar annotation

Conflicting Classifications
13 submitters4 publications

not specified; not provided; Long QT syndrome;Cardiomyopathy;Ventricular tachycardia; Hypertrophic cardiomyopathy 1; Cardiomyopathy; MYLK2-related disorder

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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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