rs67501347
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs67501347(C;G) |
| Make rs67501347(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38411908 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs67501347 |
| dbSNP (classic) | rs67501347 |
| ClinGen | rs67501347 |
| ebi | rs67501347 |
| HLI | rs67501347 |
| Exac | rs67501347 |
| Gnomad | rs67501347 |
| Varsome | rs67501347 |
| LitVar | rs67501347 |
| Map | rs67501347 |
| PheGenI | rs67501347 |
| Biobank | rs67501347 |
| 1000 genomes | rs67501347 |
| hgdp | rs67501347 |
| ensembl | rs67501347 |
| geneview | rs67501347 |
| scholar | rs67501347 |
| rs67501347 | |
| pharmgkb | rs67501347 |
| gwascentral | rs67501347 |
| openSNP | rs67501347 |
| 23andMe | rs67501347 |
| SNPshot | rs67501347 |
| SNPdbe | rs67501347 |
| MSV3d | rs67501347 |
| GWAS Ctlg | rs67501347 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs67501347(A;A) rs67501347(G;G) |
| Alt | rs67501347(A;A) rs67501347(G;G) |
| Reference | Rs67501347(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38271161C>A; NC_000023.10:g.38271161C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000083608.1, RCV000083609.1, |
[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
[PMID 11793483] Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
