rs121908009
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | sulfite oxidase deficiency (likely) |
| (A;G) | 1.5 | carrier of a sulfite oxidase deficiency allele |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 56004978 |
| Gene | SUOX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908009 |
| dbSNP (classic) | rs121908009 |
| ClinGen | rs121908009 |
| ebi | rs121908009 |
| HLI | rs121908009 |
| Exac | rs121908009 |
| Gnomad | rs121908009 |
| Varsome | rs121908009 |
| LitVar | rs121908009 |
| Map | rs121908009 |
| PheGenI | rs121908009 |
| Biobank | rs121908009 |
| 1000 genomes | rs121908009 |
| hgdp | rs121908009 |
| ensembl | rs121908009 |
| geneview | rs121908009 |
| scholar | rs121908009 |
| rs121908009 | |
| pharmgkb | rs121908009 |
| gwascentral | rs121908009 |
| openSNP | rs121908009 |
| 23andMe | rs121908009 |
| SNPshot | rs121908009 |
| SNPdbe | rs121908009 |
| MSV3d | rs121908009 |
| GWAS Ctlg | rs121908009 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | Rs121908009(A;A) |
| Alt | Rs121908009(A;A) |
| Reference | Rs121908009(G;G) |
| Significance | Pathogenic |
| Disease | Sulfite oxidase deficiency |
| Variation | info |
| Gene | SUOX |
| CLNDBN | Sulfite oxidase deficiency, isolated |
| Reversed | 0 |
| HGVS | NC_000012.11:g.56398762G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004027.3, |
SULFITE OXIDASE DEFICIENCY, ISOLATED SUOX, GLY473ASP
In a cell line from a patient with isolated sulfite oxidase deficiency (272300), Kisker et al. (1997) found a G-to-A substitution at nucleotide 1418 of the cDNA of liver sulfite oxidase, resulting in a gly-to-asp substitution at amino acid 473.[PMID 9428520]
