rs121964861
This is a variant in the TNNT2 gene that changes a aspartate to an tyrosine.
▶ClinVar annotation
Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2
View on ClinVar →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]
View all TNNT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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