|
rs121913641
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs121913641
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Serial observations and mutational analysis of an adoptee with family history of hypertrophic cardiomyopathy.
|
20309391 |
2010 |
|
rs121913641
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
|
20800588 |
2010 |
|
rs121913641
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
|
18409188 |
2008 |
|
rs121913641
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy.
|
18411228 |
2008 |
|
rs121913641
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.
|
15858117 |
2005 |
|
rs121913641
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
|
rs121913641
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
|
rs121913641
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
rs121913641
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).
|
12473556 |
2002 |
|
rs121913641
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).
|
12473556 |
2002 |
|
rs121913641
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family.
|
11498078 |
2001 |
|
rs121913641
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
|
10521296 |
1999 |
|
rs121913641
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.
|
7848441 |
1994 |