{{Rsnum
|rsid=1047883
|Gene=CPS1
|Chromosome=2
|position=210591913
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=T
|GMAF=0.4362
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CPS1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 18.5 | 44.6 | 36.9
| HCB | 28.9 | 51.1 | 20.0
| JPT | 13.3 | 55.6 | 31.1
| YRI | 7.9 | 50.8 | 41.3
| ASW | 0.0 | 0.0 | 0.0
| CHB | 28.9 | 51.1 | 20.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1047883
|allele=T
|frequency=
|uid=1103658353580
|type=homozygous_SNP
|hugo=CPS1
|ensembl gene=ENSG00000021826
|ensembl transcript=ENST00000233072
|sift=AFFECT FUNCTION
|disease=Defects in CPS1 are the cause of CPS1 deficiency (MIM:237300); an autosomal recessive metabolic disorder that cause a type of hyperammonemia. Clinical symptoms are vomiting in infancy, protein intolerance, intermittent ataxia, seizures, lethargy, and mental retardation.
}}

{{ neighbor
| rsid = 28940283
| distance = 20
}}

{{GET Evidence
|gene=CPS1
|aa_change=Thr344Ala
|aa_change_short=T344A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1047883
|overall_frequency_n=6422
|overall_frequency_d=10758
|overall_frequency=0.596951
|n_genomes=51
|n_genomes_annotated=0
|n_haplomes=51
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.302
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=3
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}