CPS1

carbamoyl-phosphate synthase 1

Summary

The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]

Known Variants1,585 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3755182	2:211,342,138	T/G	—	benign
rs111491997	2:211,342,472	A/G	—	benign
rs763703546	2:211,342,489	T/G	—	uncertain significance
rs17552879	2:211,342,502	G/A	—	benign
rs3856349	2:211,346,051	T/C	upstream gene variant	—
rs28485712	2:211,347,806	T/C	intron variant	—
rs187097936	2:211,362,949	C/G	intron variant	—
rs13396296	2:211,367,095	A/C	—	—
rs373566700	2:211,377,735	T/G	—	—
rs182706441	2:211,380,073	G/A	intron variant	—
rs148372684	2:211,389,779	G/A	intron variant	—
rs2664237	2:211,393,123	G/A	intron variant	—
rs6744531	2:211,394,187	G/T	intron variant	—
rs2664234	2:211,395,046	T/A	intron variant	—
rs2544307	2:211,403,117	G/A	intron variant	—
rs4673538	2:211,418,890	C/T	intron variant	—
rs75313076	2:211,421,105	G/T	—	likely benign
rs73073545	2:211,421,122	C/A	—	benign
rs6732642	2:211,421,264	G/A	—	benign
rs182021022	2:211,421,330	G/A	—	likely benign
rs372753413	2:211,421,382	A/G	—	uncertain significance
rs147937942	2:211,421,429	T/G	—	likely benign
rs768210605	2:211,421,454	C/A	—	uncertain significance
rs1553507155	2:211,421,460	G/T	—	likely pathogenic
rs150314086	2:211,421,462	C/T	—	conflicting classifications of pathogenicity
rs374246990	2:211,421,463	G/A	—	likely benign
rs750705469	2:211,421,465	G/T	—	uncertain significance
rs2106037152	2:211,421,466	G/A	—	likely benign
rs1696924953	2:211,421,472	G/C	—	uncertain significance
rs144889339	2:211,421,474	C/T	—	likely benign
rs1450956728	2:211,421,475	A/G	—	likely benign
rs1553507167	2:211,421,482	A/T	—	pathogenic
rs1696925444	2:211,421,484	A/G	—	likely benign
rs1696925949	2:211,421,490	G/A	—	likely benign
rs755098080	2:211,421,496	A/C	—	likely benign
rs1391510696	2:211,421,502	G/A	—	likely benign
rs868808195	2:211,421,506	G/A	—	conflicting classifications of pathogenicity
rs2106037275	2:211,421,514	C/T	—	likely benign
rs2106037321	2:211,421,523	T/C	—	likely benign
rs1696927192	2:211,421,526	G/A	—	likely benign
rs752849933	2:211,421,527	A/G	—	uncertain significance
rs149570645	2:211,421,531	C/A	—	conflicting classifications of pathogenicity
rs745616278	2:211,421,535	C/T	—	likely benign
rs2469040081	2:211,421,536	C/T	—	likely pathogenic
rs574128765	2:211,421,541	A/G	—	likely benign
rs2469040102	2:211,421,543	G/A	—	likely pathogenic
rs1574520391	2:211,421,561	G/A	—	uncertain significance
rs2469040162	2:211,421,562	C/A	—	likely benign
rs2469040179	2:211,421,565	C/T	—	likely benign
rs749164722	2:211,421,569	C/T	—	uncertain significance
rs1696928769	2:211,421,571	C/T	—	likely benign
rs148708735	2:211,421,578	G/T	—	conflicting classifications of pathogenicity
rs1553507183	2:211,421,584	G/A	—	likely pathogenic
rs2469040272	2:211,421,590	C/T	—	likely benign
rs2469040280	2:211,421,593	A/G	—	likely benign
rs2469040283	2:211,421,595	A/G	—	likely benign
rs747717816	2:211,421,596	T/C	—	likely benign
rs2469040301	2:211,421,599	A/G	—	likely benign
rs2469040304	2:211,421,600	T/C	—	likely benign
rs201351777	2:211,421,601	T/A	—	likely benign
rs987479260	2:211,421,602	G/T	—	likely benign
rs60586565	2:211,421,707	G/A	—	benign
rs17824552	2:211,424,880	T/A	—	—
rs13013076	2:211,437,387	C/G	intron variant	—
rs114783002	2:211,437,924	G/T	—	benign
rs115329306	2:211,437,929	T/A	—	benign
rs2469077818	2:211,438,005	T/C	—	likely benign
rs1437706712	2:211,438,006	G/T	—	likely benign
rs1553508991	2:211,438,009	A/C	—	likely benign
rs2106073173	2:211,438,015	T/C	—	likely benign
rs1180708087	2:211,438,016	C/G	—	likely benign
rs2469077866	2:211,438,020	A/G	—	likely pathogenic
rs121912593	2:211,438,025	C/T	stop gained	pathogenic
rs1414234472	2:211,438,030	A/G	—	likely benign
rs2469077892	2:211,438,033	A/G	—	likely benign
rs2106073214	2:211,438,036	C/T	—	likely benign
rs2469077941	2:211,438,039	T/C	—	likely benign
rs1574540092	2:211,438,042	C/G	—	likely benign
rs2469077959	2:211,438,044	T/C	—	likely pathogenic
rs141481633	2:211,438,049	G/A	—	conflicting classifications of pathogenicity
rs779756731	2:211,438,050	A/G	—	uncertain significance
rs140092912	2:211,438,053	G/C	—	uncertain significance
rs778958318	2:211,438,062	T/G	missense variant	pathogenic
rs1574540146	2:211,438,069	T/C	—	likely benign
rs1390730716	2:211,438,072	C/T	—	likely benign
rs529836556	2:211,438,081	C/T	—	conflicting classifications of pathogenicity
rs772730335	2:211,438,087	A/G	—	likely benign
rs375979196	2:211,438,089	C/T	—	uncertain significance
rs192759073	2:211,438,090	C/T	synonymous variant	likely benign
rs1203626815	2:211,438,116	A/G	—	uncertain significance
rs1450875442	2:211,438,123	C/G	—	likely benign
rs182678639	2:211,438,129	A/G	—	conflicting classifications of pathogenicity
rs1553509023	2:211,438,132	G/T	—	likely pathogenic
rs2469078388	2:211,438,135	A/G	—	likely pathogenic
rs1553509024	2:211,438,136	G/A	—	uncertain significance
rs538300887	2:211,438,146	T/C	—	likely benign
rs751641622	2:211,438,149	A/G	—	likely benign
rs7573258	2:211,438,396	G/A	—	benign
rs116031642	2:211,440,979	C/T	—	benign
rs752741541	2:211,441,056	G/A	—	likely benign

Showing 100 of 1,585 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.