CBS

cystathionine beta-synthase

Summary

The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]

Known Variants959 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs234715	21:43,068,285	G/T	intron variant	benign
rs114892713	21:44,473,240	C/T	—	likely benign
rs73372351	21:44,473,246	C/G	—	benign
rs111413325	21:44,473,309	T/C	—	likely benign
rs866356348	21:44,473,398	A/T	—	uncertain significance
rs111969522	21:44,473,424	C/T	—	likely benign
rs706209	21:44,473,425	G/A	—	benign
rs706208	21:44,473,446	A/G	—	benign
rs111386779	21:44,473,450	C/T	—	conflicting classifications of pathogenicity
rs886057096	21:44,473,518	G/A	—	uncertain significance
rs571374721	21:44,473,581	C/A	—	uncertain significance
rs1175113287	21:44,473,596	G/A	—	uncertain significance
rs73372352	21:44,473,607	G/A	—	likely benign
rs1202078818	21:44,473,685	A/G	—	uncertain significance
rs12613	21:44,473,691	C/T	—	benign
rs4987122	21:44,473,694	A/G	—	uncertain significance
rs998021241	21:44,473,704	T/C	—	uncertain significance
rs544806265	21:44,473,850	C/T	—	uncertain significance
rs550053103	21:44,473,858	C/G	—	uncertain significance
rs1051319	21:44,473,867	G/C	—	benign
rs115406358	21:44,473,909	C/T	—	likely benign
rs141447394	21:44,473,910	G/A	—	uncertain significance
rs374464201	21:44,473,956	C/T	—	likely benign
rs367597108	21:44,473,962	C/T	—	uncertain significance
rs55646248	21:44,473,963	G/A	—	benign
rs1051316	21:44,473,968	G/A	—	uncertain significance
rs1555869789	21:44,473,970	A/G	—	uncertain significance
rs1555869794	21:44,473,971	C/T	—	uncertain significance
rs200259659	21:44,473,972	C/T	—	conflicting classifications of pathogenicity
rs9978104	21:44,473,980	G/T	—	benign
rs762624262	21:44,473,984	C/T	—	uncertain significance
rs1365095601	21:44,473,990	T/G	—	uncertain significance
rs767500762	21:44,473,992	A/C	—	uncertain significance
rs2146315248	21:44,473,993	C/T	—	likely benign
rs1339685494	21:44,473,996	C/T	—	likely benign
rs2517365240	21:44,473,998	G/T	—	uncertain significance
rs2146315284	21:44,473,999	G/A	—	likely benign
rs1980865900	21:44,474,001	C/T	—	uncertain significance
rs143945898	21:44,474,002	C/G	—	likely benign
rs150828989	21:44,474,003	C/T	—	likely benign
rs766444814	21:44,474,004	G/A	—	uncertain significance
rs2146315391	21:44,474,005	C/T	—	likely benign
rs2146315419	21:44,474,008	C/T	—	likely benign
rs754031824	21:44,474,012	G/A	—	uncertain significance
rs139651937	21:44,474,013	C/T	—	conflicting classifications of pathogenicity
rs566810122	21:44,474,014	G/A	—	likely benign
rs758818777	21:44,474,020	G/A	—	likely benign
rs121964968	21:44,474,030	A/G	missense variant	pathogenic
rs747522167	21:44,474,040	C/T	—	uncertain significance
rs769221457	21:44,474,041	G/A	—	likely benign
rs2517365738	21:44,474,044	G/A	—	likely benign
rs779569366	21:44,474,046	C/T	—	uncertain significance
rs2517365754	21:44,474,047	C/T	—	likely benign
rs1568916218	21:44,474,049	C/A	—	uncertain significance
rs748953468	21:44,474,052	C/T	—	uncertain significance
rs768230991	21:44,474,053	G/A	—	likely benign
rs2146315777	21:44,474,062	C/T	—	likely benign
rs2517365943	21:44,474,064	G/A	—	pathogenic
rs2146315789	21:44,474,065	C/A	—	likely benign
rs551198487	21:44,474,066	C/T	—	uncertain significance
rs1455031864	21:44,474,067	G/A	—	uncertain significance
rs1555869958	21:44,474,070	G/A	—	pathogenic
rs150037641	21:44,474,071	A/G	—	likely benign
rs2517366167	21:44,474,074	G/C	—	likely benign
rs2517366230	21:44,474,080	C/T	—	likely benign
rs201916339	21:44,474,082	C/T	—	uncertain significance
rs773052594	21:44,474,083	G/A	—	likely benign
rs1555869979	21:44,474,094	C/G	—	likely pathogenic
rs760609383	21:44,474,095	T/G	—	likely pathogenic
rs2517366478	21:44,474,098	G/C	—	conflicting classifications of pathogenicity
rs2146316045	21:44,474,099	G/A	—	likely benign
rs2517366559	21:44,474,102	A/T	—	likely benign
rs2517366619	21:44,474,104	A/G	—	likely benign
rs766380369	21:44,474,106	C/G	—	likely benign
rs571037613	21:44,474,107	G/A	—	likely benign
rs1057522673	21:44,474,109	G/A	—	likely benign
rs759681037	21:44,474,111	C/T	—	likely benign
rs2517366779	21:44,474,113	G/T	—	likely benign
rs114623741	21:44,474,141	G/A	—	likely benign
rs73906414	21:44,474,194	A/G	—	likely benign
rs8132811	21:44,475,877	T/C	—	benign
rs8132812	21:44,475,882	C/T	—	benign
rs760124	21:44,475,953	C/T	—	benign
rs138874126	21:44,476,712	C/T	—	likely benign
rs234701	21:44,476,759	G/A	—	benign
rs2517381655	21:44,476,893	C/G	—	likely benign
rs1555871071	21:44,476,897	G/A	—	likely benign
rs1197570638	21:44,476,898	C/T	—	likely benign
rs756804767	21:44,476,901	G/C	—	likely benign
rs368848051	21:44,476,902	G/A	—	likely benign
rs1981221145	21:44,476,903	C/A	—	likely benign
rs1177023001	21:44,476,904	C/T	—	likely benign
rs373940613	21:44,476,905	C/T	—	likely benign
rs1176139037	21:44,476,906	C/A	—	likely benign
rs2517381949	21:44,476,908	C/T	—	uncertain significance
rs1434118781	21:44,476,912	C/T	—	pathogenic
rs750311684	21:44,476,914	C/T	—	likely benign
rs1463986810	21:44,476,922	G/A	—	pathogenic
rs187828882	21:44,476,926	G/A	—	conflicting classifications of pathogenicity
rs1328834710	21:44,476,927	T/C	—	uncertain significance

Showing 100 of 959 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.