{{Rsnum
|rsid=67960011
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=OTC
|position=38401309
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=OTC
}}{{omim
|id=300461
|rsnum=67960011
|variant=0003
}}{{ClinVar
|rsid=67960011
|Reversed=0
|FwdREF=C
|FwdALT=G,T
|REF=C
|ALT=G,T
|RSPOS=38260562
|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.38260562C>G; NC_000023.10:g.38260562C>T
|CLNORIGIN=0
|CLNSIG=5
|CLNCUI=
|Tags=PM;PMC;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000083432.1; RCV000011735.5; RCV000083433.1
|CLNDBN=not provided; Ornithine carbamoyltransferase deficiency
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK154378:C0268542:311250:664:80908008
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=300461.0003
|Disease=not provided; Ornithine carbamoyltransferase deficiency
}}{{PMID|16786505}} Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

{{PMID|2741942|OA=1
}} Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.