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rs67120076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs67120076(C;G)
Make rs67120076(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38408752
GeneOTC
is asnp
is mentioned by
dbSNPrs67120076
ebirs67120076
HLIrs67120076
Exacrs67120076
Varsomers67120076
Maprs67120076
PheGenIrs67120076
hapmaprs67120076
1000 genomesrs67120076
hgdprs67120076
ensemblrs67120076
gopubmedrs67120076
geneviewrs67120076
scholarrs67120076
googlers67120076
pharmgkbrs67120076
gwascentralrs67120076
openSNPrs67120076
23andMers67120076
23andMe allrs67120076
SNP Nexus

SNPshotrs67120076
SNPdbers67120076
MSV3drs67120076
GWAS Ctlgrs67120076
Max Magnitude0
ClinVar
Risk rs67120076(G,T;G,T)
Alt rs67120076(G,T;G,T)
Reference rs67120076(C;C)
Significance Other
Disease not provided Ornithine carbamoyltransferase deficiency
Variation info
Gene OTC
CLNDBN not provided Ornithine carbamoyltransferase deficiency
Reversed 0
HGVS NC_000023.10:g.38268005C>G; NC_000023.10:g.38268005C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083535.1, RCV000011747.7, RCV000083536.1,



[PMID 9427144] Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.


[PMID 1721894] Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.