rs80338802
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80338802(A;A) |
| Make rs80338802(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 42410926 |
| Gene | CAPN3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338802 |
| dbSNP (classic) | rs80338802 |
| ClinGen | rs80338802 |
| ebi | rs80338802 |
| HLI | rs80338802 |
| Exac | rs80338802 |
| Gnomad | rs80338802 |
| Varsome | rs80338802 |
| LitVar | rs80338802 |
| Map | rs80338802 |
| PheGenI | rs80338802 |
| Biobank | rs80338802 |
| 1000 genomes | rs80338802 |
| hgdp | rs80338802 |
| ensembl | rs80338802 |
| geneview | rs80338802 |
| scholar | rs80338802 |
| rs80338802 | |
| pharmgkb | rs80338802 |
| gwascentral | rs80338802 |
| openSNP | rs80338802 |
| 23andMe | rs80338802 |
| SNPshot | rs80338802 |
| SNPdbe | rs80338802 |
| MSV3d | rs80338802 |
| GWAS Ctlg | rs80338802 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338802(A;A) |
| Alt | rs80338802(A;A) |
| Reference | Rs80338802(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.42703124G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000020096.3, |
[PMID 7720071] Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
[PMID 9246005
] DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene.
[PMID 12461690] Clinical variability in calpainopathy: what makes the difference?
