rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
CausalMutation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
rs397516457
×
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
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
T
0.800
CausalMutation
CLINVAR
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
20624503
2011
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
15563892
2005
rs397516457
×
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
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
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
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
12707239
2003
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
CausalMutation
CLINVAR
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization.
14654368
2003
rs397516457
×
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
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
T
0.800
CausalMutation
CLINVAR
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
11606294
2001
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
CausalMutation
CLINVAR
Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy.
10978365
2000
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.
11034944
2000
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.
10525521
1999
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
CausalMutation
CLINVAR
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.
10525521
1999
rs397516457
×
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
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
Sudden death due to troponin T mutations.
9060892
1997
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.
9140840
1997
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.
8989109
1996
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
0.800
GeneticVariation
UNIPROT
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
7898523
1995
rs397516457
×
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
rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
T
0.800
CausalMutation
CLINVAR
The chromosome, its anatomy, and its aberrations.
2003160
1991