{{Rsnum
|rsid=121912594
|Chromosome=2
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=CPS1
|position=210675762
|Gene_s=CPS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=608307
|rsnum=121912594
|variant=0006
}}{{ClinVar
|rsid=121912594
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=211540486
|CHROM=2
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=CPS1:1373
|GENE_NAME=CPS1
|GENE_ID=1373
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.211540486A>C
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000002524.4; RCV000002525.4
|CLNDBN=Pulmonary hypertension, neonatal, susceptibility to; Venoocclusive disease after bone marrow transplantation, susceptibility to
|CLNDSDB=MedGen:OMIM; MedGen
|CLNDSDBID=C0032768:615371; C1842297
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608307.0006
|Disease=Pulmonary hypertension; Venoocclusive disease after bone marrow transplantation
}}