{{Rsnum
|rsid=121912593
|Chromosome=2
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CPS1
|position=210573301
|Gene_s=CPS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=608307
|rsnum=121912593
|variant=0003
}}{{ClinVar
|rsid=121912593
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=211438025
|CHROM=2
|dbSNPBuildID=133
|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.211438025C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=608307.0003
|CLNSIG=5
|CLNCUI=C0751753
|CLNDBN=Congenital hyperammonemia, type I
|Disease=Congenital hyperammonemia
|CLNACC=RCV000002521.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0751753:237300:147:62522004
}}