rs68170503
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of an ornithine carbamoyltransferase mutation |
| (T;T) | 8.2 | Ornithine Transcarbamylase Deficiency |
| Make rs68170503(A;A) |
| Make rs68170503(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38403741 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs68170503 |
| dbSNP (classic) | rs68170503 |
| ClinGen | rs68170503 |
| ebi | rs68170503 |
| HLI | rs68170503 |
| Exac | rs68170503 |
| Gnomad | rs68170503 |
| Varsome | rs68170503 |
| LitVar | rs68170503 |
| Map | rs68170503 |
| PheGenI | rs68170503 |
| Biobank | rs68170503 |
| 1000 genomes | rs68170503 |
| hgdp | rs68170503 |
| ensembl | rs68170503 |
| geneview | rs68170503 |
| scholar | rs68170503 |
| rs68170503 | |
| pharmgkb | rs68170503 |
| gwascentral | rs68170503 |
| openSNP | rs68170503 |
| 23andMe | rs68170503 |
| SNPshot | rs68170503 |
| SNPdbe | rs68170503 |
| MSV3d | rs68170503 |
| GWAS Ctlg | rs68170503 |
| Max Magnitude | 8.2 |
| ClinVar | |
|---|---|
| Risk | rs68170503(A;A) Rs68170503(T;T) |
| Alt | rs68170503(A;A) Rs68170503(T;T) |
| Reference | Rs68170503(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38262994G>A; NC_000023.10:g.38262994G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000083527.1, RCV000083528.2, |
[PMID 9266388] Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.
[PMID 8566955] Identification of four novel splice site mutations in the ornithine transcarbamylase gene.
