{{Rsnum
|rsid=1800321
|Gene=OTC
|Chromosome=X
|position=38367350
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.1971
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=OTC
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 66.4 | 15.0 | 18.6
| HCB | 99.3 | 0.7 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 51.0 | 20.4 | 28.6
| ASW | 61.4 | 29.8 | 8.8
| CHB | 99.3 | 0.7 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 94.1 | 1.0 | 5.0
| LWK | 43.1 | 30.3 | 26.6
| MEX | 77.6 | 13.8 | 8.6
| MKK | 57.1 | 21.2 | 21.8
| TSI | 54.9 | 19.6 | 25.5
| HapMapRevision=28
}}{{omim
|desc=ORNITHINE TRANSCARBAMYLASE POLYMORPHISM
|id=300461
|rsnum=1800321
|variant=0009
}}

{{PMID Auto
|PMID=19574962
|Title=Association of Ornithine Transcarbamylase Gene Polymorphisms With Hypertension and Coronary Artery Vasomotion
}}

{{ClinVar
|rsid=1800321
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=38226603
|CHROM=X
|GMAF=0.197107
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05036800000017051f110101
|GENEINFO=OTC:5009
|GENE_NAME=OTC
|GENE_ID=5009
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.38226603A>G
|CLNORIGIN=1
|CLNSIG=2
|Tags=PM;PMC;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.8029; 0.1971
|CLNACC=RCV000011741.1; RCV000079082.1
|CLNDBN=ORNITHINE TRANSCARBAMYLASE POLYMORPHISM; AllHighlyPenetrant
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=1673; 300461.0009
|COMMON=1
|Disease=ORNITHINE TRANSCARBAMYLASE POLYMORPHISM; AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
}}

{{GET Evidence
|gene=OTC
|aa_change=Lys46Arg
|aa_change_short=K46R
|impact=benign
|qualified_impact=Insufficiently evaluated benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800321
|overall_frequency_n=2571
|overall_frequency_d=8758
|overall_frequency=0.29356
|n_genomes=22
|n_genomes_annotated=0
|n_haplomes=33
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.008
|genetests_testable=Y
|nblosum100=-3
|autoscore=3
|webscore=N
|n_web_uneval=8
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}