rs72558454
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of an ornithine carbamoyltransferase mutation |
| (T;T) | 8.2 | Ornithine Transcarbamylase Deficiency |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38408987 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72558454 |
| dbSNP (classic) | rs72558454 |
| ClinGen | rs72558454 |
| ebi | rs72558454 |
| HLI | rs72558454 |
| Exac | rs72558454 |
| Gnomad | rs72558454 |
| Varsome | rs72558454 |
| LitVar | rs72558454 |
| Map | rs72558454 |
| PheGenI | rs72558454 |
| Biobank | rs72558454 |
| 1000 genomes | rs72558454 |
| hgdp | rs72558454 |
| ensembl | rs72558454 |
| geneview | rs72558454 |
| scholar | rs72558454 |
| rs72558454 | |
| pharmgkb | rs72558454 |
| gwascentral | rs72558454 |
| openSNP | rs72558454 |
| 23andMe | rs72558454 |
| SNPshot | rs72558454 |
| SNPdbe | rs72558454 |
| MSV3d | rs72558454 |
| GWAS Ctlg | rs72558454 |
| Max Magnitude | 8.2 |
| ClinVar | |
|---|---|
| Risk | Rs72558454(T;T) |
| Alt | Rs72558454(T;T) |
| Reference | Rs72558454(C;C) |
| 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.38268240C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000011746.2, RCV000083586.3, |
[PMID 2246687] Late-onset ornithine transcarbamylase deficiency in male patients.
