rs397516456
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.
26507537
2016
rs397516456
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach.
22334656
2012
rs397516456
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Shared genetic causes of cardiac hypertrophy in children and adults.
18403758
2008
rs397516456
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction.
14722098
2004
rs397516456
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.
10617660
2000
rs397516456
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.
10085122
1999
rs397516456
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Sudden death due to troponin T mutations.
9060892
1997
rs397516456
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility.
9201030
1997
rs397516456
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene.
8951566
1996
rs397516456
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
7898523
1995
rs397516456
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
8205619
1994