Gene entry
CPS1
carbamoyl-phosphate synthase 1
- Chromosome
- 2
- Cytoband
- 2q34
- Variants (rsID)
- 50
CPS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q34). Its official name is “carbamoyl-phosphate synthase 1”. The reference table lists 50 variants (rsID) for this gene.
Clinically classified variants
16 reference-table entries with clinical significance.
- rs1047891Benignsingle nucleotide variantCongenital hyperammonemia, type I
- rs111491997Benignsingle nucleotide variant
- rs115897023Benignsingle nucleotide variantCongenital hyperammonemia, type I
- rs138395129Benignsingle nucleotide variantCongenital hyperammonemia, type I
- rs138779023Benignsingle nucleotide variantCongenital hyperammonemia, type I
- rs147937942Benignsingle nucleotide variantCongenital hyperammonemia, type I
- rs16844647Benignsingle nucleotide variantCongenital hyperammonemia, type I
- rs2287598Benignsingle nucleotide variant
- rs4567871Benignsingle nucleotide variant
- rs715Benignsingle nucleotide variantCongenital hyperammonemia, type I
- rs75395645Benignsingle nucleotide variantCongenital hyperammonemia, type I
- rs201058019Conflicting interpretationssingle nucleotide variantCongenital hyperammonemia, type I
- rs41272669Conflicting interpretationssingle nucleotide variantCongenital hyperammonemia, type I
- rs144230667Likely benignsingle nucleotide variantCongenital hyperammonemia, type I
- rs121912592Likely pathogenicsingle nucleotide variantCongenital hyperammonemia, type I
- rs200214298Pathogenicsingle nucleotide variant
Other listed variants
- rs918233
- rs981024
- rs2270476
- rs2302909
- rs2371004
- rs3821135
- rs4356603
- rs4363965
- rs7599931
- rs10184633
- rs12468557
- rs12694205
- rs13033773
- rs13399140
- rs17825520
- rs34449727
- rs71422705
- rs74566181
- rs74982911
- rs75266462
- rs77268067
- rs78365831
- rs79627159
- rs112826830
- rs113317681
- rs114798794
- rs115412697
- rs115837354
- rs117065979
- rs141481633
- rs141945326
- rs146430797
- rs150971421
- rs186441487
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.