TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: Cardiomyopathy, Familial Hypertrophic, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		A 0.800 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		A 0.800 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745 2013
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		A 0.800 CausalMutation CLINVAR Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy. 23494605 2013
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512 2012
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		A 0.800 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275 2011
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		A 0.800 CausalMutation CLINVAR [Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene]. 17456375 2007
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 GeneticVariation UNIPROT Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892 2005
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		A 0.800 CausalMutation CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892 2005
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		A 0.800 CausalMutation CLINVAR Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany. 14636924 2003
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 GeneticVariation UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 GeneticVariation UNIPROT Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. 11034944 2000
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 GeneticVariation UNIPROT A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy. 9482583 1998
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 GeneticVariation UNIPROT Sudden death due to troponin T mutations. 9060892 1997
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 GeneticVariation UNIPROT Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 7898523 1995
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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