|
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
|
18409188 |
2008 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
|
10806205 |
2000 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Calpain-1-dependent degradation of troponin I mutants found in familial hypertrophic cardiomyopathy.
|
14575308 |
2003 |
|
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy.
|
12746413 |
2003 |
|
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.
|
19035361 |
2009 |
|
rs104894724
|
|
C |
0.740 |
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 |
|
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy.
|
16288990 |
2005 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Effect of Arg145Gly mutation in human cardiac troponin I on the ATPase activity of cardiac myofibrils.
|
10731705 |
2000 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Effects of phosphorylation and mutation R145G on human cardiac troponin I function.
|
11724573 |
2001 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Effects of T142 phosphorylation and mutation R145G on the interaction of the inhibitory region of human cardiac troponin I with the C-domain of human cardiac troponin C.
|
12044157 |
2002 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Effects of the mutation R145G in human cardiac troponin I on the kinetics of the contraction-relaxation cycle in isolated cardiac myofibrils.
|
15718266 |
2005 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Expression of cTnI-R145G affects shortening properties of adult rat cardiomyocytes.
|
18548271 |
2008 |
|
rs104894724
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206Gln mutation had occurred de novo, thus strongly suggesting that cTnI is the seventh HCM gene.
|
9241277 |
1997 |
|
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
|
15607392 |
2004 |
|
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China.
|
15992656 |
2005 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy.
|
11801593 |
2002 |
|
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.
|
19651143 |
2009 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.
|
16531415 |
2006 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations.
|
20641121 |
2010 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
|
9241277 |
1997 |
|
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I.
|
16020591 |
2005 |
|
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.
|
17599605 |
2007 |
|
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.
|
21533915 |
2011 |
|
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Reduced peak current of L-type Ca(2+) channel in cells transduced with cTnI R146W might contribute to the disease-causing mechanism of this mutation in patients with hypertrophic cardiomyopathy.
|
18269819 |
2007 |
|
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres.
|
27557662 |
2016 |