Variant: rs267607125 

    present in Gene: TNNC1;NISCH
    present in Chromosome: 3
    Position on Chromosome: 52453993
    Alleles of this Variant: G/A

rs267607125 in TNNC1;NISCH gene and Cardiomyopathy, Familial Hypertrophic, 13 PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 16302972 2005 Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.

PMID 11385718 2001 First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.

PMID 18572189 2008 Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.

PMID 19439414 2009 A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.

rs267607125 in TNNC1;NISCH gene and Hypertrophic Cardiomyopathy PMID 23425245 2013 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.

PMID 20459070 2010 Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.

PMID 27604170 2016 Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.

PMID 19439414 2009 A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.

PMID 18572189 2008 Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.

PMID 26976709 2016 Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C.

PMID 28533433 2017 Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations.

PMID 26304555 2015 In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene.

PMID 21056975 2011 Strong cross-bridges potentiate the Ca(2+) affinity changes produced by hypertrophic cardiomyopathy cardiac troponin C mutants in myofilaments: a fast kinetic approach.

PMID 28473771 2017 Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.

PMID 22489623 2012 Effect of hypertrophic cardiomyopathy-linked troponin C mutations on the response of reconstituted thin filaments to calcium upon troponin I phosphorylation.