rs68058881
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8.2 | Ornithine Transcarbamylase Deficiency |
| (A;G) | 3 | Carrier of an ornithine carbamoyltransferase mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38369878 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs68058881 |
| dbSNP (classic) | rs68058881 |
| ClinGen | rs68058881 |
| ebi | rs68058881 |
| HLI | rs68058881 |
| Exac | rs68058881 |
| Gnomad | rs68058881 |
| Varsome | rs68058881 |
| LitVar | rs68058881 |
| Map | rs68058881 |
| PheGenI | rs68058881 |
| Biobank | rs68058881 |
| 1000 genomes | rs68058881 |
| hgdp | rs68058881 |
| ensembl | rs68058881 |
| geneview | rs68058881 |
| scholar | rs68058881 |
| rs68058881 | |
| pharmgkb | rs68058881 |
| gwascentral | rs68058881 |
| openSNP | rs68058881 |
| 23andMe | rs68058881 |
| SNPshot | rs68058881 |
| SNPdbe | rs68058881 |
| MSV3d | rs68058881 |
| GWAS Ctlg | rs68058881 |
| Max Magnitude | 8.2 |
| ClinVar | |
|---|---|
| Risk | Rs68058881(A;A) rs68058881(T;T) |
| Alt | Rs68058881(A;A) rs68058881(T;T) |
| Reference | Rs68058881(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38229131G>A; NC_000023.10:g.38229131G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000083392.1, RCV000083393.1, |
[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 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
