rs267607125
TNNC1;NISCH
Cardiomyopathy, Familial Hypertrophic, 13
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
21267010
2011
rs267607126
×
Entrez Id:
7134
Gene Symbol:
TNNC1
TNNC1
Cardiomyopathy, Familial Hypertrophic, 13
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
21267010
2011
rs267607125
TNNC1;NISCH
Cardiomyopathy, Familial Hypertrophic, 13
0.800
GeneticVariation
UNIPROT
A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.
19439414
2009
rs267607126
×
Entrez Id:
7134
Gene Symbol:
TNNC1
TNNC1
Cardiomyopathy, Familial Hypertrophic, 13
0.800
GeneticVariation
UNIPROT
A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.
19439414
2009
rs267607125
TNNC1;NISCH
Cardiomyopathy, Familial Hypertrophic, 13
0.800
GeneticVariation
UNIPROT
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
18572189
2008
rs267607126
×
Entrez Id:
7134
Gene Symbol:
TNNC1
TNNC1
Cardiomyopathy, Familial Hypertrophic, 13
0.800
GeneticVariation
UNIPROT
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
18572189
2008
rs267607125
TNNC1;NISCH
Cardiomyopathy, Familial Hypertrophic, 13
0.800
GeneticVariation
UNIPROT
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.
16302972
2005
rs267607126
×
Entrez Id:
7134
Gene Symbol:
TNNC1
TNNC1
Cardiomyopathy, Familial Hypertrophic, 13
0.800
GeneticVariation
UNIPROT
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.
16302972
2005
rs267607125
TNNC1;NISCH
Cardiomyopathy, Familial Hypertrophic, 13
0.800
GeneticVariation
UNIPROT
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.
11385718
2001
rs267607126
×
Entrez Id:
7134
Gene Symbol:
TNNC1
TNNC1
Cardiomyopathy, Familial Hypertrophic, 13
0.800
GeneticVariation
UNIPROT
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.
11385718
2001
rs267607125
TNNC1;NISCH
Cardiomyopathy, Familial Hypertrophic, 13
A
0.800
GeneticVariation
CLINVAR
rs267607125
TNNC1;NISCH
Cardiomyopathy, Familial Hypertrophic, 13
A
0.800
CausalMutation
CLINVAR
rs267607126
×
Entrez Id:
7134
Gene Symbol:
TNNC1
TNNC1
Cardiomyopathy, Familial Hypertrophic, 13
T
0.800
CausalMutation
CLINVAR
rs267607125
TNNC1;NISCH
Hypertrophic Cardiomyopathy
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
rs267607125
TNNC1;NISCH
Hypertrophic Cardiomyopathy
A
0.710
GeneticVariation
CLINVAR
Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.
28473771
2017
rs267607125
TNNC1;NISCH
Hypertrophic Cardiomyopathy
A
0.710
GeneticVariation
CLINVAR
Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+ -sensitizing mutations.
28533433
2017
rs267607125
TNNC1;NISCH
Hypertrophic Cardiomyopathy
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
rs267607125
TNNC1;NISCH
Hypertrophic Cardiomyopathy
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
rs267607125
TNNC1;NISCH
Hypertrophic Cardiomyopathy
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
rs267607125
TNNC1;NISCH
Hypertrophic Cardiomyopathy
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
rs267607125
TNNC1;NISCH
Hypertrophic Cardiomyopathy
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
rs267607125
TNNC1;NISCH
Hypertrophic Cardiomyopathy
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
rs267607125
TNNC1;NISCH
Hypertrophic Cardiomyopathy
A
0.710
GeneticVariation
CLINVAR
Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.
20459070
2010
rs267607125
TNNC1;NISCH
Hypertrophic Cardiomyopathy
A
0.710
GeneticVariation
CLINVAR
A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.
19439414
2009
rs267607125
TNNC1;NISCH
Hypertrophic Cardiomyopathy
A
0.710
GeneticVariation
CLINVAR
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
18572189
2008