rs104894724
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
0.810
GeneticVariation
BEFREE
These res ults suggest that the RCM -associated cTnI R145W mutation induces a permanent structural state that is similar to, but more extensive than, that induced by PKC-mediated phosphorylation of cTnI Thr-143.
27557662
2016
rs104894724
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
0.810
GeneticVariation
UNIPROT
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
12531876
2003
rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
0.810
GeneticVariation
BEFREE
We have created transgenic mice (cTnI(193His) mice) that express the corresponding human RCM R192H mutation.
20580639
2010
rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
0.810
GeneticVariation
UNIPROT
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
12531876
2003
rs104894730
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
0.810
GeneticVariation
UNIPROT
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
12531876
2003
rs104894730
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
0.810
GeneticVariation
BEFREE
The mutation K178E in the second actin-tropomyosin (Tm) binding region showed a particularly potent Ca2+-sensitizing effect among the six RCM -causing mutations.
16288990
2005
rs121917760
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
0.810
GeneticVariation
UNIPROT
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
12531876
2003
rs121917760
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
0.810
GeneticVariation
BEFREE
A previous study involving the same amino acid identified a p.Leu144Gln mutation in a patient presenting with RCM , with clinical features of HCM.
25940119
2016
rs104894724
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
9241277
1997
rs104894724
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs104894724
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
12707239
2003
rs104894724
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs104894724
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
12974739
2003
rs104894724
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs104894724
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
11815426
2002
rs104894724
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
16199542
2005
rs104894724
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
21267010
2011
rs104894725
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs104894725
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
12707239
2003
rs104894725
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
21267010
2011
rs104894725
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
11815426
2002
rs104894725
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
9241277
1997
rs104894725
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
16199542
2005
rs104894725
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs104894725
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800
GeneticVariation
UNIPROT
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
12974739
2003