{{Rsnum
|rsid = 28940283
|Gene = CPS1
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=2
|position=210591893
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CPS1
}}{{omim
|desc=CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
|id=608307
|rsnum=28940283
|variant=0004
}}

{{ neighbor
| rsid = 1047883
| distance = 20
}}

{{ClinVar
|rsid=28940283
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=211456617
|CHROM=2
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=CPS1:1373
|GENE_NAME=CPS1
|GENE_ID=1373
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.211456617A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=608307.0004
|CLNSIG=5
|CLNCUI=C0751753
|CLNDBN=Congenital hyperammonemia, type I
|Disease=Congenital hyperammonemia
|CLNACC=RCV000002522.2
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0751753:237300:147:62522004
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}