rs111033367
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 5 | Usher syndrome, type 2A |
| (CT;CT) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 216190280 |
| Gene | USH2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033367 |
| dbSNP (classic) | rs111033367 |
| ClinGen | rs111033367 |
| ebi | rs111033367 |
| HLI | rs111033367 |
| Exac | rs111033367 |
| Gnomad | rs111033367 |
| Varsome | rs111033367 |
| LitVar | rs111033367 |
| Map | rs111033367 |
| PheGenI | rs111033367 |
| Biobank | rs111033367 |
| 1000 genomes | rs111033367 |
| hgdp | rs111033367 |
| ensembl | rs111033367 |
| geneview | rs111033367 |
| scholar | rs111033367 |
| rs111033367 | |
| pharmgkb | rs111033367 |
| gwascentral | rs111033367 |
| openSNP | rs111033367 |
| 23andMe | rs111033367 |
| SNPshot | rs111033367 |
| SNPdbe | rs111033367 |
| MSV3d | rs111033367 |
| GWAS Ctlg | rs111033367 |
| Max Magnitude | 5 |
aka c.4338_4339delCT (p.Cys1447Glnfs)
This mutation in the USH2A gene is the major cause of Usher syndrome type 2a in Canadians of French origin (and is therefore considered a founder mutation in that population). {{PMID|18665195|OA=1]]
| ClinVar | |
|---|---|
| Risk | Rs111033367(-;-) |
| Alt | Rs111033367(-;-) |
| Reference | Rs111033367(CT;CT) |
| Significance | Pathogenic |
| Disease | Usher syndrome USH2A-Related Disorders |
| Variation | info |
| Gene | USH2A |
| CLNDBN | Usher syndrome, type 2A USH2A-Related Disorders |
| Reversed | 1 |
| HGVS | NC_000001.10:g.216363622_216363623delAG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002447.6, RCV000310917.1, |
[PMID 10729113
] Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
[PMID 18665195] An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
