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rs66564822

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs66564822(A;A)
Make rs66564822(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401389
GeneOTC
is asnp
is mentioned by
dbSNPrs66564822
ebirs66564822
HLIrs66564822
Exacrs66564822
Varsomers66564822
Maprs66564822
PheGenIrs66564822
hapmaprs66564822
1000 genomesrs66564822
hgdprs66564822
ensemblrs66564822
gopubmedrs66564822
geneviewrs66564822
scholarrs66564822
googlers66564822
pharmgkbrs66564822
gwascentralrs66564822
openSNPrs66564822
23andMers66564822
23andMe allrs66564822
SNP Nexus

SNPshotrs66564822
SNPdbers66564822
MSV3drs66564822
GWAS Ctlgrs66564822
Max Magnitude0
ClinVar
Risk rs66564822(A,G;A,G)
Alt rs66564822(A,G;A,G)
Reference rs66564822(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38260642C>A; NC_000023.10:g.38260642C>G
CLNSRC ClinVar
CLNACC RCV000083462.1, RCV000083463.1,



[PMID 9427144] Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.


[PMID 9452024] Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.