rs72554331
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 | 38369815 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72554331 |
| dbSNP (classic) | rs72554331 |
| ClinGen | rs72554331 |
| ebi | rs72554331 |
| HLI | rs72554331 |
| Exac | rs72554331 |
| Gnomad | rs72554331 |
| Varsome | rs72554331 |
| LitVar | rs72554331 |
| Map | rs72554331 |
| PheGenI | rs72554331 |
| Biobank | rs72554331 |
| 1000 genomes | rs72554331 |
| hgdp | rs72554331 |
| ensembl | rs72554331 |
| geneview | rs72554331 |
| scholar | rs72554331 |
| rs72554331 | |
| pharmgkb | rs72554331 |
| gwascentral | rs72554331 |
| openSNP | rs72554331 |
| 23andMe | rs72554331 |
| SNPshot | rs72554331 |
| SNPdbe | rs72554331 |
| MSV3d | rs72554331 |
| GWAS Ctlg | rs72554331 |
| Max Magnitude | 8.2 |
| ClinVar | |
|---|---|
| Risk | Rs72554331(A;A) |
| Alt | Rs72554331(A;A) |
| Reference | Rs72554331(G;G) |
| Significance | Pathogenic |
| Disease | Ornithine carbamoyltransferase deficiency not provided |
| Variation | info |
| Gene | OTC |
| CLNDBN | Ornithine carbamoyltransferase deficiency not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38229068G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000011753.10, RCV000083369.1, |
[PMID 1480464] Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.
