rs1060500235
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathies
0.010
GeneticVariation
BEFREE
Two novel variants in cardiomyopathy -related genes were identified: c.247 A > C; p.N83H in the Troponin T Type 2 gene (TNNT2) and c.2863G > A; p.D955N in the Myosin Heavy Polypeptide 7 gene (MYH7).
28642161
2017
rs111344408
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Familial dilated cardiomyopathy
G
0.700
GeneticVariation
CLINVAR
rs111377893
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.
10617660
2000
rs111377893
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease.
11560853
2001
rs111377893
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants.
10529204
1999
rs111377893
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action.
8958207
1996
rs111377893
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy.
9637714
1998
rs111377893
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish.
21245263
2011
rs111377893
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
8205619
1994
rs111377893
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
7898523
1995
rs111377893
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
G
0.700
GeneticVariation
CLINVAR
rs111377893
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
The Delta 14 mutation of human cardiac troponin T enhances ATPase activity and alters the cooperative binding of S1-ADP to regulated actin.
15568820
2004
rs111377893
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Hypertrophic Cardiomyopathy
A
0.700
GeneticVariation
CLINVAR
Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish.
21245263
2011
rs121964855
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
T
0.800
CausalMutation
CLINVAR
Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations.
21683708
2011
rs121964855
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
Sudden death due to troponin T mutations.
9060892
1997
rs121964855
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
21846512
2012
rs121964855
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
T
0.800
CausalMutation
CLINVAR
Characterization of the two eIF4A-binding sites on human eIF4G-1.
11060291
2001
rs121964855
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
T
0.800
CausalMutation
CLINVAR
Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy.
11113119
2001
rs121964855
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
12974739
2003
rs121964855
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
8205619
1994
rs121964855
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
16199542
2005
rs121964855
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
T
0.800
CausalMutation
CLINVAR
Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.
23663841
2013
rs121964855
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
T
0.800
CausalMutation
CLINVAR
Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.
10617660
2000
rs121964855
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
21267010
2011
rs121964855
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.
9482583
1998