rs397516044

This variant is located in the MYBPC3 gene.

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ClinVar annotation

Pathogenic★★★☆
11 submitters12 publications

Cardiomyopathy (CMYO); Cardiovascular phenotype; Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 4; Primary familial hypertrophic cardiomyopathy (HCM)

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About MYBPC3

MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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