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rs66741318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66741318(C;C)
Make rs66741318(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401332
GeneOTC
is asnp
is mentioned by
dbSNPrs66741318
ebirs66741318
HLIrs66741318
Exacrs66741318
Varsomers66741318
Maprs66741318
PheGenIrs66741318
hapmaprs66741318
1000 genomesrs66741318
hgdprs66741318
ensemblrs66741318
gopubmedrs66741318
geneviewrs66741318
scholarrs66741318
googlers66741318
pharmgkbrs66741318
gwascentralrs66741318
openSNPrs66741318
23andMers66741318
23andMe allrs66741318
SNP Nexus

SNPshotrs66741318
SNPdbers66741318
MSV3drs66741318
GWAS Ctlgrs66741318
Max Magnitude0
ClinVar
Risk rs66741318(C;C) rs66741318(T;T)
Alt rs66741318(C;C) rs66741318(T;T)
Reference Rs66741318(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.38260585G>C; NC_000023.10:g.38260585G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011758.6, RCV000083441.1, RCV000083442.1,



[PMID 9056557] Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency.


[PMID 9590019] [Ornithine transcarbamylase deficiency (OTCD)].