rs145520567

This is a variant in the MYL3 gene that changes a aspartate to an asparagine.

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ClinVar annotation

Pathogenic★★★☆
11 submitters8 publications

Cardiomyopathy (CMYO); Cardiovascular phenotype; Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 8; not specified

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About MYL3

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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