rs116840778
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs116840778(A;A) |
| Make rs116840778(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 8733956 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs116840778 |
| dbSNP (classic) | rs116840778 |
| ClinGen | rs116840778 |
| ebi | rs116840778 |
| HLI | rs116840778 |
| Exac | rs116840778 |
| Gnomad | rs116840778 |
| Varsome | rs116840778 |
| LitVar | rs116840778 |
| Map | rs116840778 |
| PheGenI | rs116840778 |
| Biobank | rs116840778 |
| 1000 genomes | rs116840778 |
| hgdp | rs116840778 |
| ensembl | rs116840778 |
| geneview | rs116840778 |
| scholar | rs116840778 |
| rs116840778 | |
| pharmgkb | rs116840778 |
| gwascentral | rs116840778 |
| openSNP | rs116840778 |
| 23andMe | rs116840778 |
| SNPshot | rs116840778 |
| SNPdbe | rs116840778 |
| MSV3d | rs116840778 |
| GWAS Ctlg | rs116840778 |
| Merged from | Rs121909278 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs116840778(A;A) rs116840778(C;C) |
| Alt | rs116840778(A;A) rs116840778(C;C) |
| Reference | Rs116840778(G;G) |
| Significance | Pathogenic |
| Disease | Rippling muscle disease 2 Creatine phosphokinase Limb-girdle muscular dystrophy Distal myopathy Rippling muscle disease not provided |
| Variation | info |
| Gene | SSUH2 CAV3 |
| CLNDBN | Rippling muscle disease 2 Creatine phosphokinase, elevated serum Limb-girdle muscular dystrophy, type 1C Distal myopathy, Tateyama type Rippling muscle disease not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8775642G>A; NC_000003.11:g.8775642G>C |
| CLNSRC | Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008776.3, RCV000008777.3, RCV000008778.5, RCV000023083.3, RCV000261960.1, RCV000408119.1, RCV000024438.1, |
[PMID 10746614] Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
[PMID 15580566] Molecular and muscle pathology in a series of caveolinopathy patients.
[PMID 11756609] A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
[PMID 12269726] Rippling muscle disease in childhood.
[PMID 12807393] Caveolin-3 gene mutation in Japanese with rippling muscle disease.
[PMID 15318349] Phenotypic variability associated with Arg26Gln mutation in caveolin3.
[PMID 12939441] Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
[PMID 11805270] Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
[PMID 11353417] Rippling muscle disease: evidence for phenotypic and genetic heterogeneity.
[PMID 11431690] Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
[PMID 16723230] Rippling muscle disease.
[PMID 17897828] Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
[PMID 18583131] Caveolinopathy--new mutations and additional symptoms.
