rs1057517771
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1057517772
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs121913624
|
|
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.
|
10725281 |
2000 |
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils.
|
18565996 |
2008 |
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.
|
1638703 |
1992 |
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.
|
9826622 |
1998 |
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathy.
|
8898372 |
1996 |
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation.
|
10086390 |
1999 |
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
|
27247418 |
2016 |
rs121913624
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.
|
8282798 |
1994 |
rs121913624
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy.
|
9172070 |
1997 |
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs121913624
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
|
9829907 |
1998 |
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy.
|
9541509 |
1998 |
rs121913624
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.
|
1638703 |
1992 |
rs121913624
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain.
|
10329202 |
1999 |
rs121913624
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.
|
11733062 |
2001 |
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.
|
17351073 |
2007 |
rs121913624
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121913624
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Hereditary cardiovascular dysplasia. A form of familial cardiomyopathy.
|
13732753 |
1961 |