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rs121908009

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome12
Position56004978
GeneSUOX
is asnp
is mentioned by
dbSNPrs121908009
ebirs121908009
HLIrs121908009
Exacrs121908009
Varsomers121908009
Maprs121908009
PheGenIrs121908009
hapmaprs121908009
1000 genomesrs121908009
hgdprs121908009
ensemblrs121908009
gopubmedrs121908009
geneviewrs121908009
scholarrs121908009
googlers121908009
pharmgkbrs121908009
gwascentralrs121908009
openSNPrs121908009
23andMers121908009
23andMe allrs121908009
SNP Nexus

SNPshotrs121908009
SNPdbers121908009
MSV3drs121908009
GWAS Ctlgrs121908009
Max Magnitude5
OMIM606887
Desc
Variant0004
Relatedalso
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
CLNACC RCV000004027.2,


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]