rs80338801
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80338801(A;A) |
| Make rs80338801(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 42392638 |
| Gene | CAPN3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338801 |
| dbSNP (classic) | rs80338801 |
| ClinGen | rs80338801 |
| ebi | rs80338801 |
| HLI | rs80338801 |
| Exac | rs80338801 |
| Gnomad | rs80338801 |
| Varsome | rs80338801 |
| LitVar | rs80338801 |
| Map | rs80338801 |
| PheGenI | rs80338801 |
| Biobank | rs80338801 |
| 1000 genomes | rs80338801 |
| hgdp | rs80338801 |
| ensembl | rs80338801 |
| geneview | rs80338801 |
| scholar | rs80338801 |
| rs80338801 | |
| pharmgkb | rs80338801 |
| gwascentral | rs80338801 |
| openSNP | rs80338801 |
| 23andMe | rs80338801 |
| SNPshot | rs80338801 |
| SNPdbe | rs80338801 |
| MSV3d | rs80338801 |
| GWAS Ctlg | rs80338801 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338801(A;A) |
| Alt | rs80338801(A;A) |
| Reference | Rs80338801(G;G) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | CAPN3 |
| CLNDBN | Limb-girdle muscular dystrophy, type 2A |
| Reversed | 0 |
| HGVS | NC_000015.9:g.42684836G>A |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020097.1, |
[PMID 8624690] Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
[PMID 9777948
] Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.
