rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.
|
23539503 |
2013 |
rs74315379
|
|
A |
0.720 |
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
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
rs74315380
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
rs74315380
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.
|
21551322 |
2011 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mutations in sarcomere protein genes in left ventricular noncompaction.
|
18506004 |
2008 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
[Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population].
|
19253838 |
2008 |
rs74315380
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Mutations in sarcomere protein genes in left ventricular noncompaction.
|
18506004 |
2008 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
|
17932326 |
2007 |
rs74315380
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
|
17932326 |
2007 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.
|
15769782 |
2005 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform.
|
15623536 |
2005 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
|
15923195 |
2005 |
rs74315380
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
|
15923195 |
2005 |
rs74315380
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
|
15542288 |
2004 |
rs74315379
|
|
A |
0.720 |
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
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Different functional properties of troponin T mutants that cause dilated cardiomyopathy.
|
12923187 |
2003 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.
|
11684629 |
2001 |
rs45578238
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.
|
31333075 |
2019 |
rs45578238
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
|
31568572 |
2019 |
rs397516471
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death.
|
28669108 |
2017 |
rs397516471
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy.
|
29367539 |
2017 |
rs483352832
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
|
27153395 |
2016 |
rs397516464
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
rs483352832
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).
|
24992688 |
2014 |