rs397517925
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 3 | Carrier of an Usher syndrome mutation |
| (T;T) | 5 | Usher syndrome, type 1G |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 74919463 |
| Gene | USH1G |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397517925 |
| dbSNP (classic) | rs397517925 |
| ClinGen | rs397517925 |
| ebi | rs397517925 |
| HLI | rs397517925 |
| Exac | rs397517925 |
| Gnomad | rs397517925 |
| Varsome | rs397517925 |
| LitVar | rs397517925 |
| Map | rs397517925 |
| PheGenI | rs397517925 |
| Biobank | rs397517925 |
| 1000 genomes | rs397517925 |
| hgdp | rs397517925 |
| ensembl | rs397517925 |
| geneview | rs397517925 |
| scholar | rs397517925 |
| rs397517925 | |
| pharmgkb | rs397517925 |
| gwascentral | rs397517925 |
| openSNP | rs397517925 |
| 23andMe | rs397517925 |
| SNPshot | rs397517925 |
| SNPdbe | rs397517925 |
| MSV3d | rs397517925 |
| GWAS Ctlg | rs397517925 |
| Max Magnitude | 5 |
rs397517925, also known as c.1373A>T, p.Asp458Val and D458V, represents a rare mutation in the USH1G gene on chromosome 17.
Inherited as an autosomal recessive, the minor allele is considered in ClinVar (and BabySeq) as likely to be pathogenic for a form of Usher syndrome (type 1G).
| ClinVar | |
|---|---|
| Risk | Rs397517925(T;T) |
| Alt | Rs397517925(T;T) |
| Reference | Rs397517925(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | USH1G |
| CLNDBN | Usher syndrome, type 1G |
| Reversed | 1 |
| HGVS | NC_000017.10:g.72915558T>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000041415.3, |
