rs67367843
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs67367843(C;C) |
| Make rs67367843(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38401430 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs67367843 |
| dbSNP (classic) | rs67367843 |
| ClinGen | rs67367843 |
| ebi | rs67367843 |
| HLI | rs67367843 |
| Exac | rs67367843 |
| Gnomad | rs67367843 |
| Varsome | rs67367843 |
| LitVar | rs67367843 |
| Map | rs67367843 |
| PheGenI | rs67367843 |
| Biobank | rs67367843 |
| 1000 genomes | rs67367843 |
| hgdp | rs67367843 |
| ensembl | rs67367843 |
| geneview | rs67367843 |
| scholar | rs67367843 |
| rs67367843 | |
| pharmgkb | rs67367843 |
| gwascentral | rs67367843 |
| openSNP | rs67367843 |
| 23andMe | rs67367843 |
| SNPshot | rs67367843 |
| SNPdbe | rs67367843 |
| MSV3d | rs67367843 |
| GWAS Ctlg | rs67367843 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs67367843(A;A) rs67367843(C;C) |
| Alt | rs67367843(A;A) rs67367843(C;C) |
| Reference | Rs67367843(T;T) |
| Significance | Pathogenic |
| Disease | not provided Ornithine carbamoyltransferase deficiency |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided Ornithine carbamoyltransferase deficiency |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38260683T>A; NC_000023.10:g.38260683T>C |
| CLNSRC | HGMD |
| CLNACC | RCV000083481.1, RCV000079085.4, RCV000178788.1, |
[PMID 7474892] Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.
[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
