rs121913637
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs121913637
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
|
23140321 |
2012 |
rs121913637
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genetic basis of end-stage hypertrophic cardiomyopathy.
|
21896538 |
2011 |
rs121913637
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
|
18409188 |
2008 |
rs121913637
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
rs121913637
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.
|
15858117 |
2005 |
rs121913637
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
rs121913637
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy.
|
10882745 |
2000 |
rs121913637
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.
|
9544842 |
1998 |
rs121913637
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.
|
7848441 |
1994 |