rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
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
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.
26656454
2015
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).
24992688
2014
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin.
24367593
2013
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.
23539503
2013
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
21846512
2012
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.800
GeneticVariation
UNIPROT
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
21846512
2012
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies.
18349139
2008
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
The changes of the cardiac structure and function in cTnTR141W transgenic mice.
18606313
2008
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.800
GeneticVariation
UNIPROT
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.
15769782
2005
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.
15769782
2005
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform.
15623536
2005
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.800
GeneticVariation
UNIPROT
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
15542288
2004
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization.
14654368
2003
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
Different functional properties of troponin T mutants that cause dilated cardiomyopathy.
12923187
2003
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.
11684629
2001
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.800
GeneticVariation
UNIPROT
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.
11684629
2001
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
11106718
2000