rs80338804
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (A;A) | 0 | common in clinvar |
| (AG;AG) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| Make rs80338804(-;AG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 42410982 |
| Gene | CAPN3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338804 |
| dbSNP (classic) | rs80338804 |
| ClinGen | rs80338804 |
| ebi | rs80338804 |
| HLI | rs80338804 |
| Exac | rs80338804 |
| Gnomad | rs80338804 |
| Varsome | rs80338804 |
| LitVar | rs80338804 |
| Map | rs80338804 |
| PheGenI | rs80338804 |
| Biobank | rs80338804 |
| 1000 genomes | rs80338804 |
| hgdp | rs80338804 |
| ensembl | rs80338804 |
| geneview | rs80338804 |
| scholar | rs80338804 |
| rs80338804 | |
| pharmgkb | rs80338804 |
| gwascentral | rs80338804 |
| openSNP | rs80338804 |
| 23andMe | rs80338804 |
| SNPshot | rs80338804 |
| SNPdbe | rs80338804 |
| MSV3d | rs80338804 |
| GWAS Ctlg | rs80338804 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | Rs80338804(AG;AG) rs80338804(TC;TC) rs80338804(TCATCT;TCATCT) |
| Alt | Rs80338804(AG;AG) rs80338804(TC;TC) rs80338804(TCATCT;TCATCT) |
| Reference | Rs80338804(-;-) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy Myositis not provided |
| Variation | info |
| Gene | CAPN3 |
| CLNDBN | Limb-girdle muscular dystrophy, type 2A Myositis, eosinophilic not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.42703180_42703181delAGinsTCATCT; NC_000015.9:g.42703180_42703181insTC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019184.31, RCV000019185.28, RCV000294609.1, RCV000260574.1, |
[PMID 9150160
] Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
[PMID 9762961] Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain).
[PMID 9777948] Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.
[PMID 12461690] Clinical variability in calpainopathy: what makes the difference?
[PMID 16607617] CAPN3 mutations in patients with idiopathic eosinophilic myositis.
