rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Rippling is not always electrically silent in rippling muscle disease.
|
21404291 |
2011 |
rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases.
|
14633633 |
2003 |
rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
|
18930476 |
2009 |
rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
|
15318349 |
2004 |
rs116840795
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Myotonia associated with caveolin-3 mutation.
|
22581547 |
2012 |
rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
|
11431690 |
2001 |
rs72546668
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mutations in CAV3 are rare in LQTS.Furthermore, caveolin-3:p.T78M did not exhibit a LQTS phenotype.
|
24021552 |
2013 |
rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
|
11805270 |
2002 |
rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
|
10746614 |
2000 |
rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular and muscle pathology in a series of caveolinopathy patients.
|
15580566 |
2005 |
rs104893714
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Methods To examine the effects of human LQTS-associated cav-3 mutations on HCN4-channel function, HEK293-cells were cotransfected with HCN4 and wild-type (WT) cav-3 or a LQTS-associated cav-3 mutant (T78M, A85T, S141R, or F97C).
|
28648120 |
2017 |
rs72546668
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Methods To examine the effects of human LQTS-associated cav-3 mutations on HCN4-channel function, HEK293-cells were cotransfected with HCN4 and wild-type (WT) cav-3 or a LQTS-associated cav-3 mutant (T78M, A85T, S141R, or F97C).
|
28648120 |
2017 |
rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.
|
19380584 |
2009 |
rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
|
12939441 |
2003 |
rs28936686
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
|
12666119 |
2003 |
rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.
|
20472890 |
2010 |
rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Caveolinopathy--new mutations and additional symptoms.
|
18583131 |
2008 |
rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Caveolin-3 gene mutation in Japanese with rippling muscle disease.
|
12807393 |
2003 |
rs116840795
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
CAV3 mutation in a patient with transient hyperCKemia and myalgia.
|
27772553 |
2017 |
rs28936686
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
|
15668980 |
2005 |
rs116840778
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
|
11756609 |
2001 |
rs116840795
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
|
15099591 |
2004 |
rs1060502318
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs778914298
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs796052171
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|