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rs121908012

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/142
Chromosome10
Position125815061
GeneUROS
is asnp
is mentioned by
dbSNPrs121908012
dbSNP (old)rs121908012
ClinGenrs121908012
ebirs121908012
HLIrs121908012
Exacrs121908012
Gnomadrs121908012
Varsomers121908012
Maprs121908012
PheGenIrs121908012
Biobankrs121908012
1000 genomesrs121908012
hgdprs121908012
ensemblrs121908012
gopubmedrs121908012
geneviewrs121908012
scholarrs121908012
googlers121908012
pharmgkbrs121908012
gwascentralrs121908012
openSNPrs121908012
23andMers121908012
23andMe allrs121908012
SNPshotrs121908012
SNPdbers121908012
MSV3drs121908012
GWAS Ctlgrs121908012
Max Magnitude7

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.

OMIM606938
Desc
Variant0001
Relatedalso
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,