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rs68026851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs68026851(A;A)
Make rs68026851(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401310
GeneOTC
is asnp
is mentioned by
dbSNPrs68026851
ebirs68026851
HLIrs68026851
Exacrs68026851
Varsomers68026851
Maprs68026851
PheGenIrs68026851
hapmaprs68026851
1000 genomesrs68026851
hgdprs68026851
ensemblrs68026851
gopubmedrs68026851
geneviewrs68026851
scholarrs68026851
googlers68026851
pharmgkbrs68026851
gwascentralrs68026851
openSNPrs68026851
23andMers68026851
23andMe allrs68026851
SNP Nexus

SNPshotrs68026851
SNPdbers68026851
MSV3drs68026851
GWAS Ctlgrs68026851
Max Magnitude0
OMIM300461
Desc
Variant0002
Relatedalso


ClinVar
Risk rs68026851(A,C;A,C)
Alt rs68026851(A,C;A,C)
Reference rs68026851(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.38260563G>A; NC_000023.10:g.38260563G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011734.5, RCV000083434.1, RCV000083435.1,



[PMID 3170748OA-icon.png] Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.


[PMID 9266388] Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.