TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500235
rs1060500235
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
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
dbSNP: rs111344408
rs111344408
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0340427
Disease:
Familial dilated cardiomyopathy
G 0.700 GeneticVariation CLINVAR
dbSNP: rs111377893
rs111377893
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
T 0.700 CausalMutation CLINVAR Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. 10617660 2000
dbSNP: rs111377893
rs111377893
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease. 11560853 2001
dbSNP: rs111377893
rs111377893
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
T 0.700 CausalMutation CLINVAR Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants. 10529204 1999
dbSNP: rs111377893
rs111377893
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
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
dbSNP: rs111377893
rs111377893
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
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
dbSNP: rs111377893
rs111377893
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
T 0.700 CausalMutation CLINVAR Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish. 21245263 2011
dbSNP: rs111377893
rs111377893
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
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
dbSNP: rs111377893
rs111377893
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
T 0.700 CausalMutation CLINVAR Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 7898523 1995
dbSNP: rs111377893
rs111377893
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2
G 0.700 GeneticVariation CLINVAR
dbSNP: rs111377893
rs111377893
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
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
dbSNP: rs111377893
rs111377893
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
A 0.700 GeneticVariation CLINVAR Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish. 21245263 2011
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs121964855
rs121964855
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: rs121964855
rs121964855
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: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2
T 0.800 CausalMutation CLINVAR Characterization of the two eIF4A-binding sites on human eIF4G-1. 11060291 2001
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs121964855
rs121964855
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: rs121964855
rs121964855
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
dbSNP: rs121964855
rs121964855
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: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2
0.800 GeneticVariation UNIPROT Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 21267010 2011
dbSNP: rs121964855
rs121964855
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