rs121913631
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs121913631
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.
|
21642240 |
2011 |
rs121913631
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A deletion variant (p.L232-R238del) was present in 3 unrelated HCM probands, but it did not segregate with HCM in a family who also had a MYH7 mutation (p.L907V).
|
21642240 |
2011 |
rs121913631
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Shared genetic causes of cardiac hypertrophy in children and adults.
|
18403758 |
2008 |
rs121913631
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.
|
15858117 |
2005 |
rs121913631
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations.
|
15528230 |
2005 |
rs121913631
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
rs121913631
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
|
12975413 |
2003 |
rs121913631
|
|
C |
0.720 |
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 |
rs121913631
|
|
|
0.720 |
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 |
rs121913631
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.
|
7731997 |
1995 |
rs121913631
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.
|
8483915 |
1993 |
rs121913631
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.
|
8514894 |
1993 |
rs121913631
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.
|
8435239 |
1993 |
rs121913631
|
|
C |
0.720 |
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 |