rs397516470
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
T
0.700
CausalMutation
CLINVAR
Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation.
27036851
2016
rs397516470
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
T
0.700
CausalMutation
CLINVAR
Hypertrophic cardiomyopathy: one gene … but many phenotypes.
24792744
2014
rs397516470
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
T
0.700
CausalMutation
CLINVAR
Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy.
24480310
2014
rs397516470
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
T
0.700
CausalMutation
CLINVAR
Conduction abnormalities in pediatric patients with restrictive cardiomyopathy.
22260945
2012
rs397516470
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
T
0.700
CausalMutation
CLINVAR
Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene.
22144547
2012
rs397516470
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
T
0.700
CausalMutation
CLINVAR
Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT.
22579624
2012
rs397516470
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
T
0.700
CausalMutation
CLINVAR
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
20624503
2011
rs397516470
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
T
0.700
CausalMutation
CLINVAR
Functional consequences of the deletion mutation deltaGlu160 in human cardiac troponin T.
10731693
2000
rs397516470
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
T
0.700
CausalMutation
CLINVAR
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
7898523
1995