TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: Cardiomyopathies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516484
rs397516484
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies 		G 0.700 CausalMutation CLINVAR
dbSNP: rs45586240
rs45586240
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs730881119
rs730881119
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies 		TG 0.700 CausalMutation CLINVAR
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: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Of 180 families with genetically studied cardiomyopathies, 21 families (11.7%) were identified as having mutations in TNNT2: 10 families had Arg92Gln, 5 had Arg286His, 3 had Arg278Cys, 1 had Arg92Trp, 1 had Arg94His, and 1 had Ile221Thr. 26507537 2016
dbSNP: rs863225119
rs863225119
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE In addition, the cardiomyopathy related MYH6-A1004S and the MYBPC3-A833T mutations were also found in one and two unrelated subjects with ASDII, respectively. 22194935 2011