rs80356593
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80356593(C;T) |
| Make rs80356593(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 26477210 |
| Gene | OTOF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356593 |
| dbSNP (classic) | rs80356593 |
| ClinGen | rs80356593 |
| ebi | rs80356593 |
| HLI | rs80356593 |
| Exac | rs80356593 |
| Gnomad | rs80356593 |
| Varsome | rs80356593 |
| LitVar | rs80356593 |
| Map | rs80356593 |
| PheGenI | rs80356593 |
| Biobank | rs80356593 |
| 1000 genomes | rs80356593 |
| hgdp | rs80356593 |
| ensembl | rs80356593 |
| geneview | rs80356593 |
| scholar | rs80356593 |
| rs80356593 | |
| pharmgkb | rs80356593 |
| gwascentral | rs80356593 |
| openSNP | rs80356593 |
| 23andMe | rs80356593 |
| SNPshot | rs80356593 |
| SNPdbe | rs80356593 |
| MSV3d | rs80356593 |
| GWAS Ctlg | rs80356593 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356593(T;T) |
| Alt | rs80356593(T;T) |
| Reference | Rs80356593(C;C) |
| Significance | Other |
| Disease | Deafness Nonsyndromic hearing loss and deafness not provided |
| Variation | info |
| Gene | OTOF |
| CLNDBN | Deafness, autosomal recessive 9 Nonsyndromic hearing loss and deafness not provided |
| Reversed | 1 |
| HGVS | NC_000002.11:g.26700078G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006511.5, RCV000211838.1, RCV000325939.1, |
[PMID 12114484
] Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
[PMID 14635104] Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
[PMID 16371502] OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
