rs121964857

This is a variant in the TNNT2 gene that changes a arginine to an cysteine.

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ClinVar annotation

Pathogenic★★★☆
33 submitters86 publications

Cardiomyopathy (CMYO); Cardiomyopathy, familial restrictive, 3; Cardiovascular phenotype; Costello syndrome (CSTLO); Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 1; Hypertrophic cardiomyopathy 2; not specified

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About TNNT2

This gene encodes the cardiac isoform of troponin T. The encoded protein is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. [provided by RefSeq, May 2022]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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