rs386833621
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs386833621(A;A) |
| Make rs386833621(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 124401788 |
| Gene | OAT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833621 |
| dbSNP (classic) | rs386833621 |
| ClinGen | rs386833621 |
| ebi | rs386833621 |
| HLI | rs386833621 |
| Exac | rs386833621 |
| Gnomad | rs386833621 |
| Varsome | rs386833621 |
| LitVar | rs386833621 |
| Map | rs386833621 |
| PheGenI | rs386833621 |
| Biobank | rs386833621 |
| 1000 genomes | rs386833621 |
| hgdp | rs386833621 |
| ensembl | rs386833621 |
| geneview | rs386833621 |
| scholar | rs386833621 |
| rs386833621 | |
| pharmgkb | rs386833621 |
| gwascentral | rs386833621 |
| openSNP | rs386833621 |
| 23andMe | rs386833621 |
| SNPshot | rs386833621 |
| SNPdbe | rs386833621 |
| MSV3d | rs386833621 |
| GWAS Ctlg | rs386833621 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386833621(A;A) |
| Alt | rs386833621(A;A) |
| Reference | Rs386833621(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Ornithine aminotransferase deficiency |
| Variation | info |
| Gene | OAT |
| CLNDBN | Ornithine aminotransferase deficiency |
| Reversed | 1 |
| HGVS | NC_000010.10:g.126090357C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000049547.1, |
[PMID 1487247] A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.
[PMID 22182799] Retinal structure, function, and molecular pathologic features in gyrate atrophy.
[PMID 23076989] Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
