TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: Cardiomyopathy, Hypertrophic, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504246
rs727504246
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		0.010 GeneticVariation BEFREE An homozygous Ser(179)Phe mutation in cTnT causes a severe form of HCM characterized by striking morphological abnormalities and juvenile lethality. 11034944 2000