{{Rsnum
|rsid=66556380
|Chromosome=X
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=OTC
|position=38401273
|Gene_s=OTC
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=66556380
|Reversed=0
|FwdREF=A
|FwdALT=C,G,T
|REF=A
|ALT=C,G,T
|RSPOS=38260526
|CHROM=X
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050068000000000002110104
|GENEINFO=OTC:5009
|GENE_NAME=OTC
|GENE_ID=5009
|WGT=0
|VC=SNV
|CLNALLE=1; 2; 3
|CLNHGVS=NC_000023.10:g.38260526A>C; NC_000023.10:g.38260526A>G; NC_000023.10:g.38260526A>T
|CLNORIGIN=0
|CLNSIG=5
|CLNCUI=
|Tags=PM;PMC;OTHERKG;LSD;OM;NOV
|CLNACC=RCV000083417.1; RCV000083418.1; RCV000011745.8; RCV000083419.1
|CLNDBN=not provided; Ornithine carbamoyltransferase deficiency
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK154378:C0268542:311250:664:80908008
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=300461.0013
|Disease=not provided; Ornithine carbamoyltransferase deficiency
}}{{PMID Auto
|PMID=2035531
|Title=Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.
|OA=1
}}

{{PMID Auto
|PMID=10946359
|Title=Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.
}}