TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: Cardiomyopathy, Familial Hypertrophic, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964860
rs121964860
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		T 0.700 CausalMutation CLINVAR Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin. 26498512 2015