rs121908012
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 7 | Congenital erythropoietic porphyria (predicted) |
| (C;T) | 3 | Carrier of a congenital erythropoietic porphyria mutation |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 125815061 |
| Gene | UROS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908012 |
| dbSNP (classic) | rs121908012 |
| ClinGen | rs121908012 |
| ebi | rs121908012 |
| HLI | rs121908012 |
| Exac | rs121908012 |
| Gnomad | rs121908012 |
| Varsome | rs121908012 |
| LitVar | rs121908012 |
| Map | rs121908012 |
| PheGenI | rs121908012 |
| Biobank | rs121908012 |
| 1000 genomes | rs121908012 |
| hgdp | rs121908012 |
| ensembl | rs121908012 |
| geneview | rs121908012 |
| scholar | rs121908012 |
| rs121908012 | |
| pharmgkb | rs121908012 |
| gwascentral | rs121908012 |
| openSNP | rs121908012 |
| 23andMe | rs121908012 |
| SNPshot | rs121908012 |
| SNPdbe | rs121908012 |
| MSV3d | rs121908012 |
| GWAS Ctlg | rs121908012 |
| Max Magnitude | 7 |
aka c.217T>C, p.Cys73Arg and C73R
This recessively inherited mutation in the UROS gene, found in about one-third of all cases of congenital erythropoietic porphyria, is considered the most frequent.
| ClinVar | |
|---|---|
| Risk | Rs121908012(C;C) |
| Alt | Rs121908012(C;C) |
| Reference | Rs121908012(T;T) |
| Significance | Pathogenic |
| Disease | Congenital erythropoietic porphyria |
| Variation | info |
| Gene | UROS |
| CLNDBN | Congenital erythropoietic porphyria |
| Reversed | 1 |
| HGVS | NC_000010.10:g.127503630A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003948.3, |
