rs80338903
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;G) | 3 | Carrier of an Usher syndrome type II mutation |
| (G;G) | 0 | common in clinvar |
| Make rs80338903(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 216247095 |
| Gene | USH2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338903 |
| dbSNP (classic) | rs80338903 |
| ClinGen | rs80338903 |
| ebi | rs80338903 |
| HLI | rs80338903 |
| Exac | rs80338903 |
| Gnomad | rs80338903 |
| Varsome | rs80338903 |
| LitVar | rs80338903 |
| Map | rs80338903 |
| PheGenI | rs80338903 |
| Biobank | rs80338903 |
| 1000 genomes | rs80338903 |
| hgdp | rs80338903 |
| ensembl | rs80338903 |
| geneview | rs80338903 |
| scholar | rs80338903 |
| rs80338903 | |
| pharmgkb | rs80338903 |
| gwascentral | rs80338903 |
| openSNP | rs80338903 |
| 23andMe | rs80338903 |
| SNPshot | rs80338903 |
| SNPdbe | rs80338903 |
| MSV3d | rs80338903 |
| GWAS Ctlg | rs80338903 |
| Max Magnitude | 3 |
aka c.2299delG (p.Glu767Serfs)
Annotated in ClinVar as pathogenic for Usher syndrome type II, atypical Usher syndrome, and non-syndromic autosomal recessive retinitis pigmentosa. This mutation is one of the most common pathogenic mutations in the USH2A gene, accounting for 16%-44% of such mutations.
| ClinVar | |
|---|---|
| Risk | rs80338903(-;-) |
| Alt | rs80338903(-;-) |
| Reference | Rs80338903(G;G) |
| Significance | Pathogenic |
| Disease | Usher syndrome Retinitis pigmentosa Retinitis pigmentosa 39 Retinal dystrophy not provided |
| Variation | info |
| Gene | USH2A |
| CLNDBN | Usher syndrome, type 2A Retinitis pigmentosa Retinitis pigmentosa 39 Retinal dystrophy not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.216420437delC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002445.6, RCV000032524.2, RCV000191141.1, RCV000210326.1, RCV000254870.1, |
[PMID 10729113
] Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
[PMID 10909849] Identification of novel USH2A mutations: implications for the structure of USH2A protein.
[PMID 11402] Urban freestanding specialty hospitals under pressure, face uncertain future.
[PMID 12112664] Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
[PMID 14970843] Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
[PMID 15025721] Mutational spectrum in Usher syndrome type II.
