rs80338803
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (GAC;GAC) | 0 | common in clinvar |
| Make rs80338803(-;A) |
| Make rs80338803(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 42405938 |
| Gene | CAPN3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338803 |
| dbSNP (classic) | rs80338803 |
| ClinGen | rs80338803 |
| ebi | rs80338803 |
| HLI | rs80338803 |
| Exac | rs80338803 |
| Gnomad | rs80338803 |
| Varsome | rs80338803 |
| LitVar | rs80338803 |
| Map | rs80338803 |
| PheGenI | rs80338803 |
| Biobank | rs80338803 |
| 1000 genomes | rs80338803 |
| hgdp | rs80338803 |
| ensembl | rs80338803 |
| geneview | rs80338803 |
| scholar | rs80338803 |
| rs80338803 | |
| pharmgkb | rs80338803 |
| gwascentral | rs80338803 |
| openSNP | rs80338803 |
| 23andMe | rs80338803 |
| SNPshot | rs80338803 |
| SNPdbe | rs80338803 |
| MSV3d | rs80338803 |
| GWAS Ctlg | rs80338803 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338803(A;A) |
| Alt | rs80338803(A;A) |
| Reference | Rs80338803(-;-) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy CAPN3-Related Disorders |
| Variation | info |
| Gene | CAPN3 |
| CLNDBN | Limb-girdle muscular dystrophy, type 2A CAPN3-Related Disorders |
| Reversed | 0 |
| HGVS | NC_000015.9:g.42698136dupA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019187.25, RCV000398271.1, |
[PMID 9771675] Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.
[PMID 11525884] Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy.
