{{Rsnum
|rsid=72558431
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=OTC
|position=38408797
|Gene_s=OTC
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=X
|CLNACC=RCV000011743.5; RCV000083544.1
|CLNALLE=1
|CLNDBN=Ornithine carbamoyltransferase deficiency; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK154378:C0268542:311250:664:80908008
|CLNHGVS=NC_000023.10:g.38268050T>C
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=300461.0011
|Disease=Ornithine carbamoyltransferase deficiency; not provided
|FwdALT=C
|FwdREF=T
|GENEINFO=OTC:5009
|GENE_ID=5009
|GENE_NAME=OTC
|REF=T
|RSPOS=38268050
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=130
|rsid=72558431
}}

{{PMID Auto
|PMID=2035531
|Title=Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.
|OA=1
}}

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