rs67993095
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs67993095(A;G) |
| Make rs67993095(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38411899 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs67993095 |
| dbSNP (classic) | rs67993095 |
| ClinGen | rs67993095 |
| ebi | rs67993095 |
| HLI | rs67993095 |
| Exac | rs67993095 |
| Gnomad | rs67993095 |
| Varsome | rs67993095 |
| LitVar | rs67993095 |
| Map | rs67993095 |
| PheGenI | rs67993095 |
| Biobank | rs67993095 |
| 1000 genomes | rs67993095 |
| hgdp | rs67993095 |
| ensembl | rs67993095 |
| geneview | rs67993095 |
| scholar | rs67993095 |
| rs67993095 | |
| pharmgkb | rs67993095 |
| gwascentral | rs67993095 |
| openSNP | rs67993095 |
| 23andMe | rs67993095 |
| SNPshot | rs67993095 |
| SNPdbe | rs67993095 |
| MSV3d | rs67993095 |
| GWAS Ctlg | rs67993095 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs67993095(G;G) rs67993095(T;T) |
| Alt | rs67993095(G;G) rs67993095(T;T) |
| Reference | Rs67993095(A;A) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38271152A>G; NC_000023.10:g.38271152A>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000083600.1, RCV000083601.1, |
[PMID 11117428] Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.
[PMID 8807340] Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
