TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: Hypertrophic obstructive cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881098
rs730881098
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C4551472
Disease:
Hypertrophic obstructive cardiomyopathy 		0.010 GeneticVariation BEFREE We studied the TNNT2 gene in 127 patients with hypertrophic cardiomyopathy and identified three mutations in patients from four families (3.1%): the Phe87Leu mutation, which has not been previously reported, the Arg278Cys mutation (two families) and the Asp271Ile mutation. 20038417 2009