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rs66656800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66656800(C;C)
Make rs66656800(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38381429
GeneOTC
is asnp
is mentioned by
dbSNPrs66656800
ebirs66656800
HLIrs66656800
Exacrs66656800
Varsomers66656800
Maprs66656800
PheGenIrs66656800
hapmaprs66656800
1000 genomesrs66656800
hgdprs66656800
ensemblrs66656800
gopubmedrs66656800
geneviewrs66656800
scholarrs66656800
googlers66656800
pharmgkbrs66656800
gwascentralrs66656800
openSNPrs66656800
23andMers66656800
23andMe allrs66656800
SNP Nexus

SNPshotrs66656800
SNPdbers66656800
MSV3drs66656800
GWAS Ctlgrs66656800
Max Magnitude0
OMIM300461
Desc
Variant0025
Relatedalso


ClinVar
Risk rs66656800(A,C,T;A,C,T)
Alt rs66656800(A,C,T;A,C,T)
Reference rs66656800(G;G)
Significance Pathogenic
Disease Ornithine carbamoyltransferase deficiency not provided
Variation info
Gene OTC
CLNDBN Ornithine carbamoyltransferase deficiency not provided
Reversed 0
HGVS NC_000023.10:g.38240682G>A; NC_000023.10:g.38240682G>C; NC_000023.10:g.38240682G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011757.9, RCV000083414.1, RCV000083415.1, RCV000083416.1,



[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.


[PMID 7951259] Seven new mutations in the human ornithine transcarbamylase gene.


[PMID 8281162] Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene.