{{Rsnum
|rsid=67120076
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=OTC
|position=38408752
|Gene_s=OTC
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=67120076
|Reversed=0
|FwdREF=C
|FwdALT=G,T
|REF=C
|ALT=G,T
|RSPOS=38268005
|CHROM=X
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=OTC:5009
|GENE_NAME=OTC
|GENE_ID=5009
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000023.10:g.38268005C>G; NC_000023.10:g.38268005C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=300461.0015
|CLNSIG=5
|CLNCUI=C0268542
|CLNDBN=not provided; Ornithine carbamoyltransferase deficiency
|Disease=not provided; Ornithine carbamoyltransferase deficiency
|CLNACC=RCV000083535.1; RCV000011747.5; RCV000083536.1
|Tags=PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK154378:C0268542:311250:664:80908008
}}

{{PMID Auto
|PMID=9427144
|Title=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 Auto
|PMID=1721894
|Title=Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}