|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations.
|
24829265 |
2014 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
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 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function.
|
23798412 |
2013 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function.
|
23798412 |
2013 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
|
21810866 |
2011 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.
|
18175163 |
2008 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
|
15856146 |
2005 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
|
15856146 |
2005 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gene mutations in apical hypertrophic cardiomyopathy.
|
16267253 |
2005 |
|
rs121913625
|
|
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 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients.
|
12881443 |
2003 |
|
rs121913625
|
|
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 |
|
rs121913625
|
|
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 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
|
12818575 |
2003 |
|
rs121913625
|
|
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 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
|
rs121913625
|
|
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 |
|
rs121913625
|
|
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 |
|
rs121913625
|
|
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 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.
|
11133230 |
2001 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.
|
11133230 |
2001 |
|
rs121913625
|
|
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 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
First description of germline mosaicism in familial hypertrophic cardiomyopathy.
|
10662815 |
2000 |
|
rs121913625
|
|
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 |
|
rs121913625
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
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 |