rs80338902
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80338902(G;T) |
| Make rs80338902(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 216247118 |
| Gene | USH2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338902 |
| dbSNP (classic) | rs80338902 |
| ClinGen | rs80338902 |
| ebi | rs80338902 |
| HLI | rs80338902 |
| Exac | rs80338902 |
| Gnomad | rs80338902 |
| Varsome | rs80338902 |
| LitVar | rs80338902 |
| Map | rs80338902 |
| PheGenI | rs80338902 |
| Biobank | rs80338902 |
| 1000 genomes | rs80338902 |
| hgdp | rs80338902 |
| ensembl | rs80338902 |
| geneview | rs80338902 |
| scholar | rs80338902 |
| rs80338902 | |
| pharmgkb | rs80338902 |
| gwascentral | rs80338902 |
| openSNP | rs80338902 |
| 23andMe | rs80338902 |
| SNPshot | rs80338902 |
| SNPdbe | rs80338902 |
| MSV3d | rs80338902 |
| GWAS Ctlg | rs80338902 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338902(T;T) |
| Alt | rs80338902(T;T) |
| Reference | Rs80338902(G;G) |
| Significance | Other |
| Disease | Retinitis pigmentosa 39 Retinitis pigmentosa Usher syndrome not provided USH2A-Related Disorders |
| Variation | info |
| Gene | USH2A |
| CLNDBN | Retinitis pigmentosa 39 Retinitis pigmentosa Usher syndrome, type 2A not provided USH2A-Related Disorders |
| Reversed | 1 |
| HGVS | NC_000001.10:g.216420460C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002450.6, RCV000032523.2, RCV000041811.3, RCV000174625.2, RCV000239000.1, RCV000404009.1, |
[PMID 10775529
] Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
[PMID 12427073] Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.
[PMID 10775] [Does anesthesia have an immunosuppressive effect?].
[PMID 10909849] Identification of novel USH2A mutations: implications for the structure of USH2A protein.
[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 15325563] Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
[PMID 16098008] Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.
