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rs72558465

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72558465(G;T)
Make rs72558465(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38411906
GeneOTC
is asnp
is mentioned by
dbSNPrs72558465
ebirs72558465
HLIrs72558465
Exacrs72558465
Varsomers72558465
Maprs72558465
PheGenIrs72558465
hapmaprs72558465
1000 genomesrs72558465
hgdprs72558465
ensemblrs72558465
gopubmedrs72558465
geneviewrs72558465
scholarrs72558465
googlers72558465
pharmgkbrs72558465
gwascentralrs72558465
openSNPrs72558465
23andMers72558465
23andMe allrs72558465
SNP Nexus

SNPshotrs72558465
SNPdbers72558465
MSV3drs72558465
GWAS Ctlgrs72558465
Max Magnitude0
OMIM300461
Desc
Variant0023
Relatedalso
ClinVar
Risk rs72558465(T;T)
Alt rs72558465(T;T)
Reference rs72558465(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.38271159G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011755.5, RCV000083607.1,


[PMID 1480464] Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.