TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516347
rs397516347
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0205700
Disease:
Asymmetric Septal Hypertrophy 		0.010 GeneticVariation BEFREE The R141Q mutation was observed in two familial cases of severe asymmetric septal hypertrophy (ASH++). 22876777 2012
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0205700
Disease:
Asymmetric Septal Hypertrophy 		0.010 GeneticVariation BEFREE The R162Q mutation was observed in a ASH++ patient with mean septal thickness of 29 mm, and have also consists of allelic heterogeneity by means of having one more synonymous (E179E) mutation at g.4797: G → A: in the same exon 7, which replaces a very frequent codon (GAG: 85%) with a rare codon (GAA: 14%). 22876777 2012
dbSNP: rs397516357
rs397516357
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0004238
Disease:
Atrial Fibrillation 		0.010 GeneticVariation BEFREE Whole-exome sequencing analysis identified a mutation in TNNI3, R186Q, that co-segregated with the disease in the family, but did not exist in >1583 controls, suggesting that R186Q causes AF and HCM. 26169204 2016
dbSNP: rs104894727
rs104894727
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0878544
Disease:
Cardiomyopathies 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs397516347
rs397516347
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0878544
Disease:
Cardiomyopathies 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0878544
Disease:
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs397516357
rs397516357
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0878544
Disease:
Cardiomyopathies 		T 0.700 CausalMutation CLINVAR
dbSNP: rs730881069
rs730881069
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0878544
Disease:
Cardiomyopathies 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation. 28382084 2017
dbSNP: rs397516352
rs397516352
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs397516355
rs397516355
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs397516355
rs397516355
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770 2012
dbSNP: rs397516355
rs397516355
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs397516355
rs397516355
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
dbSNP: rs397516356
rs397516356
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770 2012
dbSNP: rs730881071
rs730881071
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		0.010 GeneticVariation BEFREE A missense mutation R141W in the strong tropomyosin-binding region of cardiac troponin T (cTnT) has recently been reported to cause dilated cardiomyopathy (DCM), following the first report of a DCM-causing deletion mutation DeltaK210. 14654368 2003
dbSNP: rs267607129
rs267607129
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		C 0.800 CausalMutation CLINVAR
dbSNP: rs267607129
rs267607129
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		0.800 GeneticVariation UNIPROT Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. 19590045 2009
dbSNP: rs267607129
rs267607129
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		0.800 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512 2012
dbSNP: rs267607130
rs267607130
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267607130
rs267607130
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		0.800 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512 2012
dbSNP: rs267607130
rs267607130
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		0.800 GeneticVariation UNIPROT Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. 19590045 2009
dbSNP: rs397516349
rs397516349
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		T 0.700 GeneticVariation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392 2004
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF 		T 0.700 GeneticVariation CLINVAR Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 21511876 2011