Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607125
rs267607125
0.710 GeneticVariation BEFREE We used a murine model of hypertrophic cardiomyopathy (HCM) harboring a cardiac troponin C (cTnC) Ca<sup>2+</sup>-sensitizing mutation, Ala8Val in the regulatory N-domain. 30138628

2018

dbSNP: rs267607125
rs267607125
A 0.710 GeneticVariation CLINVAR Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations. 28533433

2017

dbSNP: rs267607125
rs267607125
A 0.710 GeneticVariation CLINVAR Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation. 28473771

2017

dbSNP: rs267607125
rs267607125
A 0.710 GeneticVariation CLINVAR Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. 27604170

2016

dbSNP: rs267607125
rs267607125
A 0.710 GeneticVariation CLINVAR Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C. 26976709

2016

dbSNP: rs267607125
rs267607125
A 0.710 GeneticVariation CLINVAR In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene. 26304555

2015

dbSNP: rs267607125
rs267607125
A 0.710 GeneticVariation CLINVAR Effects of calcium binding and the hypertrophic cardiomyopathy A8V mutation on the dynamic equilibrium between closed and open conformations of the regulatory N-domain of isolated cardiac troponin C. 23425245

2013

dbSNP: rs267607125
rs267607125
A 0.710 GeneticVariation CLINVAR Effect of hypertrophic cardiomyopathy-linked troponin C mutations on the response of reconstituted thin filaments to calcium upon troponin I phosphorylation. 22489623

2012

dbSNP: rs267607125
rs267607125
A 0.710 GeneticVariation CLINVAR Strong cross-bridges potentiate the Ca(2+) affinity changes produced by hypertrophic cardiomyopathy cardiac troponin C mutants in myofilaments: a fast kinetic approach. 21056975

2011

dbSNP: rs267607125
rs267607125
A 0.710 GeneticVariation CLINVAR Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C. 20459070

2010

dbSNP: rs267607125
rs267607125
A 0.710 GeneticVariation CLINVAR A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy. 19439414

2009

dbSNP: rs267607125
rs267607125
A 0.710 GeneticVariation CLINVAR Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. 18572189

2008