rs66564822
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs66564822(A;A) |
| Make rs66564822(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38401389 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs66564822 |
| dbSNP (classic) | rs66564822 |
| ClinGen | rs66564822 |
| ebi | rs66564822 |
| HLI | rs66564822 |
| Exac | rs66564822 |
| Gnomad | rs66564822 |
| Varsome | rs66564822 |
| LitVar | rs66564822 |
| Map | rs66564822 |
| PheGenI | rs66564822 |
| Biobank | rs66564822 |
| 1000 genomes | rs66564822 |
| hgdp | rs66564822 |
| ensembl | rs66564822 |
| geneview | rs66564822 |
| scholar | rs66564822 |
| rs66564822 | |
| pharmgkb | rs66564822 |
| gwascentral | rs66564822 |
| openSNP | rs66564822 |
| 23andMe | rs66564822 |
| SNPshot | rs66564822 |
| SNPdbe | rs66564822 |
| MSV3d | rs66564822 |
| GWAS Ctlg | rs66564822 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs66564822(A;A) rs66564822(G;G) |
| Alt | rs66564822(A;A) rs66564822(G;G) |
| Reference | Rs66564822(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38260642C>A; NC_000023.10:g.38260642C>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000083462.1, RCV000083463.1, |
[PMID 9427144] Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.
[PMID 9452024] Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
