rs137854521
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (;) | 0 | common in clinvar |
| (-;-) | 0 | common/normal |
| Make rs137854521(-;A) |
| Make rs137854521(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 22221107 |
| Gene | ANO5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854521 |
| dbSNP (classic) | rs137854521 |
| ClinGen | rs137854521 |
| ebi | rs137854521 |
| HLI | rs137854521 |
| Exac | rs137854521 |
| Gnomad | rs137854521 |
| Varsome | rs137854521 |
| LitVar | rs137854521 |
| Map | rs137854521 |
| PheGenI | rs137854521 |
| Biobank | rs137854521 |
| 1000 genomes | rs137854521 |
| hgdp | rs137854521 |
| ensembl | rs137854521 |
| geneview | rs137854521 |
| scholar | rs137854521 |
| rs137854521 | |
| pharmgkb | rs137854521 |
| gwascentral | rs137854521 |
| openSNP | rs137854521 |
| 23andMe | rs137854521 |
| SNPshot | rs137854521 |
| SNPdbe | rs137854521 |
| MSV3d | rs137854521 |
| GWAS Ctlg | rs137854521 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854521(A;A) |
| Alt | rs137854521(A;A) |
| Reference | Rs137854521(-;-) |
| Significance | Pathogenic |
| Disease | Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy not provided Myopathy |
| Variation | info |
| Gene | ANO5 |
| CLNDBN | Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy, type 2L not provided Myopathy |
| Reversed | 0 |
| HGVS | NC_000011.9:g.22242653dupA |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000002247.6, RCV000002248.7, RCV000082844.6, RCV000200720.1, RCV000414931.1, |
[PMID 20096397
] Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
[PMID 21186264] A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
