|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interface.
|
17987111 |
2007 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gene mutations in apical hypertrophic cardiomyopathy.
|
16267253 |
2005 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
|
12975413 |
2003 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.
|
12566107 |
2003 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Molecular genetics of familial hypertrophic cardiomyopathy (FHC).
|
12601548 |
2003 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
|
12818575 |
2003 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
|
12975413 |
2003 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
|
12951062 |
2003 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.
|
12820698 |
2003 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines.
|
14607462 |
2003 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.
|
12084606 |
2002 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.
|
11733062 |
2001 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.
|
11133230 |
2001 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level.
|
11227787 |
2000 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.
|
10725281 |
2000 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Identification of an Arg403Gln beta myosin heavy chain gene mutation in a Portuguese family with hypertrophic cardiomyopathy.
|
10874840 |
2000 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene.
|
11113006 |
2000 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy.
|
10764406 |
2000 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy.
|
10862102 |
2000 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy.
|
10882745 |
2000 |