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rs72554345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72554345(C;C)
Make rs72554345(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38369860
GeneOTC
is asnp
is mentioned by
dbSNPrs72554345
ebirs72554345
HLIrs72554345
Exacrs72554345
Varsomers72554345
Maprs72554345
PheGenIrs72554345
hapmaprs72554345
1000 genomesrs72554345
hgdprs72554345
ensemblrs72554345
gopubmedrs72554345
geneviewrs72554345
scholarrs72554345
googlers72554345
pharmgkbrs72554345
gwascentralrs72554345
openSNPrs72554345
23andMers72554345
23andMe allrs72554345
SNP Nexus

SNPshotrs72554345
SNPdbers72554345
MSV3drs72554345
GWAS Ctlgrs72554345
Max Magnitude0
OMIM300461
Desc
Variant0022
Relatedalso


ClinVar
Risk rs72554345(C;C)
Alt rs72554345(C;C)
Reference rs72554345(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.38229113G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011754.5, RCV000083388.1,



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