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: rs1289010014
rs1289010014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE Interestingly,TPM1c.842T>C mutation was associated with high penetrance and severe HCM phenotype. 31308319 2019
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: rs141754300
rs141754300
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0442887
Disease:
Septal hypertrophy
0.010 GeneticVariation BEFREE We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). 27604170 2016
dbSNP: rs141754300
rs141754300
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007196
Disease:
Restrictive cardiomyopathy
0.010 GeneticVariation BEFREE We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). 27604170 2016
dbSNP: rs200754249
rs200754249
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007196
Disease:
Restrictive cardiomyopathy
0.010 GeneticVariation BEFREE We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). 27604170 2016
dbSNP: rs200754249
rs200754249
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0442887
Disease:
Septal hypertrophy
0.010 GeneticVariation BEFREE We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). 27604170 2016
dbSNP: rs970498944
rs970498944
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0442887
Disease:
Septal hypertrophy
0.010 GeneticVariation BEFREE We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). 27604170 2016
dbSNP: rs970498944
rs970498944
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007196
Disease:
Restrictive cardiomyopathy
0.010 GeneticVariation BEFREE We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). 27604170 2016
dbSNP: rs730881106
rs730881106
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM. 26458567 2015
dbSNP: rs759758840
rs759758840
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM. 26458567 2015
dbSNP: rs778730615
rs778730615
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM. 26458567 2015
dbSNP: rs730881098
rs730881098
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE These results suggest that the missense mutation (Leu84Phe) and two novel SNPs (c.192 + 353 C>A, c.192 + 463 G>A) in TNNT2 gene might be associated with DCM in the Chinese population. 25110706 2014
dbSNP: rs984218824
rs984218824
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE These results suggest that the missense mutation (Leu84Phe) and two novel SNPs (c.192 + 353 C>A, c.192 + 463 G>A) in TNNT2 gene might be associated with DCM in the Chinese population. 25110706 2014
dbSNP: rs12564445
rs12564445
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0018801
Disease:
Heart failure
0.010 GeneticVariation BEFREE The hs-cTnT-associated single-nucleotide polymorphisms were not associated with coronary heart disease in a large case-control study, but rs12564445 was significantly associated with incident heart failure in Atherosclerosis Risk in Communities Study European Americans (hazard ratio=1.16; P=0.004). 23247143 2013
dbSNP: rs12564445
rs12564445
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE The hs-cTnT-associated single-nucleotide polymorphisms were not associated with coronary heart disease in a large case-control study, but rs12564445 was significantly associated with incident heart failure in Atherosclerosis Risk in Communities Study European Americans (hazard ratio=1.16; P=0.004). 23247143 2013
dbSNP: rs12564445
rs12564445
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0003850
Disease:
Arteriosclerosis
0.010 GeneticVariation BEFREE The hs-cTnT-associated single-nucleotide polymorphisms were not associated with coronary heart disease in a large case-control study, but rs12564445 was significantly associated with incident heart failure in Atherosclerosis Risk in Communities Study European Americans (hazard ratio=1.16; P=0.004). 23247143 2013
dbSNP: rs12564445
rs12564445
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0018802
Disease:
Congestive heart failure
0.010 GeneticVariation BEFREE The hs-cTnT-associated single-nucleotide polymorphisms were not associated with coronary heart disease in a large case-control study, but rs12564445 was significantly associated with incident heart failure in Atherosclerosis Risk in Communities Study European Americans (hazard ratio=1.16; P=0.004). 23247143 2013
dbSNP: rs1892028
rs1892028
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE Linkage disequilibrium (LD) analysis showed that the SNPs rs7521796, rs2275862, rs3729547, rs10800775, and rs1892028, which are approximately 6 kb apart, were in high LD (D' > 0.80) in the DCM patients. 23586019 2013
dbSNP: rs727503512
rs727503512
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE A c.517T C>T, Arg173Trp TNNT2 variant segregated with all affected family members and was also detected in one additional DCM family in our registry. 24205113 2013
dbSNP: rs200754249
rs200754249
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE These included an A28V missense mutation, a novel single-nucleotide polymorphism (SNP) (g.7239;G→A) predicted to disturb the splicing significantly, three SNPs, rs3729547 (C→T), rs3729843 (G→A), rs3729842 (C→T), which were in high linkage disequilibrium, and a 5 bp polymorphism that skipped exon 4 during splicing, which was found to be significantly higher in HCM patients (del/del genotype, p=0.00011; deletion allele, p=0.00008). 22017532 2012
dbSNP: rs3729842
rs3729842
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE These included an A28V missense mutation, a novel single-nucleotide polymorphism (SNP) (g.7239;G→A) predicted to disturb the splicing significantly, three SNPs, rs3729547 (C→T), rs3729843 (G→A), rs3729842 (C→T), which were in high linkage disequilibrium, and a 5 bp polymorphism that skipped exon 4 during splicing, which was found to be significantly higher in HCM patients (del/del genotype, p=0.00011; deletion allele, p=0.00008). 22017532 2012
dbSNP: rs3729843
rs3729843
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE These included an A28V missense mutation, a novel single-nucleotide polymorphism (SNP) (g.7239;G→A) predicted to disturb the splicing significantly, three SNPs, rs3729547 (C→T), rs3729843 (G→A), rs3729842 (C→T), which were in high linkage disequilibrium, and a 5 bp polymorphism that skipped exon 4 during splicing, which was found to be significantly higher in HCM patients (del/del genotype, p=0.00011; deletion allele, p=0.00008). 22017532 2012
dbSNP: rs141121678
rs141121678
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE This novel mutation in MYBPC3, not present in 200 chromosomes from 200 healthy individuals, affects a codon known to harbor an HCM-causing mutation--p.Arg253His. 21425739 2011
dbSNP: rs730881120
rs730881120
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C4021133
Disease:
Left ventricular noncompaction cardiomyopathy
0.010 GeneticVariation BEFREE A novel missense substitution in exon 1 of TPM1 (c.109A>G: p.Lys37Glu) was identified in three affected members of a family with isolated LVNC. 20965760 2011