| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| ClinVar
|
| Risk
|
rs116840776(G;G) |
| Alt
|
rs116840776(G;G) |
| Reference
|
Rs116840776(C;C) |
| Significance |
Other |
| Disease |
Limb-girdle muscular dystrophy not provided not specified Limb-girdle muscular dystrophy Long QT syndrome Cardiovascular phenotype Creatine phosphokinase Distal myopathy Familial hypertrophic cardiomyopathy 1 Long QT syndrome 9 Rippling muscle disease |
| Variation | info |
|---|
| Gene |
SSUH2 CAV3 |
| CLNDBN |
Limb-girdle muscular dystrophy, type 1C not provided not specified Limb-girdle muscular dystrophy Long QT syndrome Cardiovascular phenotype Creatine phosphokinase, elevated serum Distal myopathy, Tateyama type Familial hypertrophic cardiomyopathy 1 Long QT syndrome 9 Rippling muscle disease |
| Reversed |
0 |
| HGVS |
NC_000003.11:g.8787313C>G |
| CLNSRC |
Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000008769.3, RCV000024381.1, RCV000150236.3, RCV000171752.1, RCV000205593.3, RCV000249612.1, RCV000477819.1, |
[PMID 9536092] Caveolin-3 in muscular dystrophy.
[PMID 11251997] Mutations in the caveolin-3 gene: When are they pathogenic?
[PMID 9536092] Caveolin-3 in muscular dystrophy.
[PMID 11251997] Mutations in the caveolin-3 gene: When are they pathogenic?
[PMID 17060380] Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
[PMID 17210839] Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.
