GBA1

glucosylceramidase beta 1

Summary

This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

Known Variants233 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs758806595	1:155,204,791	G/A	—	uncertain significance
rs1671655923	1:155,204,798	C/T	—	pathogenic
rs1571964031	1:155,204,811	T/C	—	uncertain significance
rs1671657974	1:155,204,831	G/A	—	uncertain significance
rs1671659716	1:155,204,849	C/G	—	uncertain significance
rs2148069969	1:155,204,860	C/T	—	likely pathogenic
rs1671660634	1:155,204,863	T/A	—	conflicting classifications of pathogenicity
rs767373402	1:155,204,882	C/T	—	likely benign
rs1571964338	1:155,204,892	C/T	—	pathogenic
rs758753152	1:155,204,898	A/G	—	uncertain significance
rs368832292	1:155,204,903	G/A	—	conflicting classifications of pathogenicity
rs794727021	1:155,204,976	T/A	—	uncertain significance
rs2148070287	1:155,204,984	A/G	—	pathogenic
rs755265316	1:155,204,988	G/C	—	likely pathogenic
rs369068553	1:155,204,996	C/G	—	conflicting classifications of pathogenicity
rs371779859	1:155,204,997	G/A	—	likely benign
rs1180779465	1:155,205,002	C/G	—	uncertain significance
rs771744004	1:155,205,016	T/A	—	uncertain significance
rs779958429	1:155,205,017	C/G	—	uncertain significance
rs149257166	1:155,205,018	G/A	—	likely benign
rs2524816213	1:155,205,028	A/G	—	uncertain significance
rs199928507	1:155,205,036	T/C	—	conflicting classifications of pathogenicity
rs1248754448	1:155,205,037	G/C	—	uncertain significance
rs759859002	1:155,205,038	C/G	—	uncertain significance
rs369966551	1:155,205,044	G/A	—	likely benign
rs75671029	1:155,205,047	C/T	—	conflicting classifications of pathogenicity
rs1057519356	1:155,205,051	C/G	—	uncertain significance
rs778537279	1:155,205,060	G/C	—	uncertain significance
rs1671676296	1:155,205,074	C/A	—	uncertain significance
rs2524816839	1:155,205,088	T/G	—	uncertain significance
rs1553216892	1:155,205,115	A/T	—	uncertain significance
rs1571965880	1:155,205,470	A/G	—	likely pathogenic
rs1671699033	1:155,205,471	C/T	—	pathogenic
rs1571965884	1:155,205,472	C/G	—	uncertain significance
rs1557901325	1:155,205,503	G/A	—	pathogenic
rs1251534134	1:155,205,505	T/C	—	uncertain significance
rs1553216985	1:155,205,512	A/T	—	pathogenic
rs750193229	1:155,205,513	C/G	—	likely benign
rs757930613	1:155,205,514	G/A	—	uncertain significance
rs1571966221	1:155,205,544	C/T	—	uncertain significance
rs75090908	1:155,205,546	G/A	—	likely benign
rs1553217009	1:155,205,548	C/T	—	pathogenic
rs79032178	1:155,205,549	G/A	—	likely benign
rs75243000	1:155,205,553	A/G	—	uncertain significance
rs778798290	1:155,205,555	G/A	—	likely benign
rs772140702	1:155,205,558	A/G	—	likely benign
rs747284798	1:155,205,560	G/A	—	likely pathogenic
rs1484043383	1:155,205,564	C/T	—	conflicting classifications of pathogenicity
rs777049786	1:155,205,567	A/G	—	likely benign
rs77738682	1:155,205,568	T/C	—	likely pathogenic
rs1671709015	1:155,205,570	G/A	—	likely benign
rs76910485	1:155,205,571	G/A	—	pathogenic
rs2148071686	1:155,205,576	T/G	—	likely benign
rs1157284216	1:155,205,579	T/C	—	likely benign
rs149171124	1:155,205,581	C/A	—	likely pathogenic
rs201499639	1:155,205,582	G/A	—	likely benign
rs1057519357	1:155,205,583	G/A	—	uncertain significance
rs1026993108	1:155,205,585	G/T	—	uncertain significance
rs2148071724	1:155,205,588	C/G	—	likely benign
rs772548282	1:155,205,589	A/G	—	likely pathogenic
rs2524820273	1:155,205,590	G/A	—	likely benign
rs2148071759	1:155,205,597	G/T	—	uncertain significance
rs2524820355	1:155,205,599	T/G	—	uncertain significance
rs2524820366	1:155,205,600	C/T	—	pathogenic
rs1671711470	1:155,205,601	C/T	—	pathogenic
rs1671712475	1:155,205,605	C/T	—	likely pathogenic
rs754743440	1:155,205,610	C/T	—	likely pathogenic
rs1450426641	1:155,205,611	A/C	—	pathogenic
rs755952419	1:155,205,615	G/A	—	likely benign
rs911331923	1:155,205,622	T/G	—	likely pathogenic
rs2524820658	1:155,205,624	G/T	—	likely pathogenic
rs749227753	1:155,205,633	G/T	—	conflicting classifications of pathogenicity
rs377143075	1:155,205,638	A/G	—	conflicting classifications of pathogenicity
rs2148071962	1:155,205,649	A/G	—	uncertain significance
rs3115534	1:155,205,669	G/T	—	benign
rs138498426	1:155,206,036	C/T	—	conflicting classifications of pathogenicity
rs75548401	1:155,206,037	G/A	—	conflicting classifications of pathogenicity
rs1057519358	1:155,206,040	A/G	—	uncertain significance
rs75528494	1:155,206,045	G/T	—	likely pathogenic
rs1392291885	1:155,206,046	C/G	—	likely pathogenic
rs773947710	1:155,206,051	G/A	—	likely benign
rs2524823781	1:155,206,056	A/C	—	uncertain significance
rs149487315	1:155,206,060	C/T	—	uncertain significance
rs74979486	1:155,206,067	C/T	—	pathogenic
rs760307559	1:155,206,076	G/A	—	pathogenic
rs761681845	1:155,206,093	C/G	—	uncertain significance
rs1161552095	1:155,206,098	C/T	—	likely pathogenic
rs868591897	1:155,206,109	G/A	—	uncertain significance
rs781306264	1:155,206,122	C/T	—	conflicting classifications of pathogenicity
rs1064648	1:155,206,157	C/T	—	uncertain significance
rs374306700	1:155,206,158	G/A	—	conflicting classifications of pathogenicity
rs143222798	1:155,206,168	C/T	—	likely benign
rs1178732315	1:155,206,172	A/G	—	likely pathogenic
rs1671753933	1:155,206,183	G/T	—	uncertain significance
rs1557902631	1:155,206,188	G/A	—	uncertain significance
rs2148073370	1:155,206,206	A/G	—	pathogenic
rs1553217294	1:155,206,208	C/G	—	likely pathogenic
rs2524825211	1:155,206,212	G/C	—	uncertain significance
rs1064647	1:155,206,222	G/A	—	likely benign
rs794727963	1:155,206,230	C/T	—	uncertain significance

Showing 100 of 233 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.