TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516471
rs397516471
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. 24205113 2013
dbSNP: rs397516471
rs397516471
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. 24367593 2013
dbSNP: rs397516471
rs397516471
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275 2011
dbSNP: rs397516471
rs397516471
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects. 19324435 2010