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rs67486158

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs67486158(A;A)
Make rs67486158(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38367361
GeneOTC
is asnp
is mentioned by
dbSNPrs67486158
ebirs67486158
HLIrs67486158
Exacrs67486158
Varsomers67486158
Maprs67486158
PheGenIrs67486158
hapmaprs67486158
1000 genomesrs67486158
hgdprs67486158
ensemblrs67486158
gopubmedrs67486158
geneviewrs67486158
scholarrs67486158
googlers67486158
pharmgkbrs67486158
gwascentralrs67486158
openSNPrs67486158
23andMers67486158
23andMe allrs67486158
SNP Nexus

SNPshotrs67486158
SNPdbers67486158
MSV3drs67486158
GWAS Ctlgrs67486158
Max Magnitude0
ClinVar
Risk rs67486158(A,T;A,T)
Alt rs67486158(A,T;A,T)
Reference rs67486158(G;G)
Significance Pathogenic
Disease not provided Ornithine carbamoyltransferase deficiency
Variation info
Gene OTC
CLNDBN not provided Ornithine carbamoyltransferase deficiency
Reversed 0
HGVS NC_000023.10:g.38226614G>A; NC_000023.10:g.38226614G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083345.1, RCV000011749.9, RCV000083346.1,



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


[PMID 1353535OA-icon.png] Site specific screening for point mutations in ornithine transcarbamylase deficiency.