GLB1

galactosidase beta 1

Summary

This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]

Known Variants863 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs187957635	3:33,007,784	A/G	intergenic variant	—
rs13314993	3:33,015,469	G/C	—	—
rs79042840	3:33,018,820	C/A	intergenic variant	—
rs4678680	3:33,020,035	G/T	intergenic variant	—
rs79603348	3:33,038,114	T/C	—	uncertain significance
rs147437116	3:33,038,161	G/C	—	likely benign
rs12167	3:33,038,183	G/A	—	benign
rs139730198	3:33,038,218	C/T	—	conflicting classifications of pathogenicity
rs557844974	3:33,038,313	C/A	—	uncertain significance
rs886058340	3:33,038,343	G/T	—	uncertain significance
rs143430374	3:33,038,353	C/T	—	likely benign
rs76762176	3:33,038,355	T/C	—	benign
rs199659949	3:33,038,493	G/A	—	uncertain significance
rs1696328310	3:33,038,498	G/A	—	uncertain significance
rs1553604644	3:33,038,537	T/G	—	uncertain significance
rs1553604645	3:33,038,539	A/G	—	uncertain significance
rs909928512	3:33,038,540	T/C	—	likely benign
rs767685019	3:33,038,541	A/C	—	uncertain significance
rs753028572	3:33,038,543	A/G	—	likely benign
rs944682680	3:33,038,549	C/T	—	likely benign
rs756403702	3:33,038,555	T/C	—	conflicting classifications of pathogenicity
rs1696330609	3:33,038,559	T/C	—	conflicting classifications of pathogenicity
rs764348340	3:33,038,562	T/C	—	uncertain significance
rs2125442597	3:33,038,563	T/C	—	uncertain significance
rs750202423	3:33,038,564	G/A	—	likely benign
rs758168173	3:33,038,569	T/A	—	uncertain significance
rs746939617	3:33,038,573	C/T	—	likely benign
rs754538192	3:33,038,574	G/A	—	uncertain significance
rs1300459240	3:33,038,576	G/A	—	likely benign
rs780675073	3:33,038,579	T/C	—	likely benign
rs2471198470	3:33,038,581	G/A	—	uncertain significance
rs1297904248	3:33,038,582	G/A	—	likely benign
rs747589996	3:33,038,588	G/A	—	likely benign
rs769449586	3:33,038,590	G/A	—	uncertain significance
rs2125442653	3:33,038,591	T/C	—	likely benign
rs772803158	3:33,038,592	C/T	—	uncertain significance
rs1553604682	3:33,038,593	T/A	—	uncertain significance
rs1283573184	3:33,038,602	C/T	—	uncertain significance
rs1374582666	3:33,038,612	G/A	—	likely benign
rs774771223	3:33,038,620	C/T	—	uncertain significance
rs569787678	3:33,038,621	G/A	—	likely benign
rs1289878163	3:33,038,624	G/A	—	likely benign
rs201051026	3:33,038,633	T/C	—	likely benign
rs1238912483	3:33,038,636	G/T	—	likely benign
rs760783370	3:33,038,640	A/G	—	uncertain significance
rs398123352	3:33,038,653	C/A	—	uncertain significance
rs2471198699	3:33,038,654	C/G	—	likely benign
rs1222326938	3:33,038,656	C/T	—	uncertain significance
rs545982076	3:33,038,657	G/A	—	likely benign
rs549550701	3:33,038,660	C/T	—	likely benign
rs369133124	3:33,038,661	G/A	—	uncertain significance
rs765620411	3:33,038,666	A/G	—	likely benign
rs1553604701	3:33,038,668	C/G	—	uncertain significance
rs766181021	3:33,038,672	T/C	—	likely benign
rs1696340552	3:33,038,674	G/C	—	uncertain significance
rs372915557	3:33,038,675	T/C	—	likely benign
rs752226641	3:33,038,692	T/G	—	uncertain significance
rs755581184	3:33,038,698	G/A	—	uncertain significance
rs1242383448	3:33,038,701	C/T	—	uncertain significance
rs748948967	3:33,038,710	G/A	—	likely benign
rs2471198938	3:33,038,716	G/T	—	uncertain significance
rs2471198945	3:33,038,717	C/G	—	likely benign
rs1375909576	3:33,038,719	C/T	—	uncertain significance
rs1257941311	3:33,038,720	G/A	—	likely benign
rs139542437	3:33,038,727	G/T	—	likely benign
rs2471198994	3:33,038,729	G/A	—	likely benign
rs201755284	3:33,038,738	C/T	—	likely benign
rs189054965	3:33,038,741	G/C	—	likely benign
rs77226678	3:33,038,747	C/G	—	benign
rs959353985	3:33,038,750	G/T	—	likely benign
rs776773620	3:33,038,756	C/T	—	likely benign
rs765307992	3:33,038,759	G/C	—	likely benign
rs2125442880	3:33,038,768	C/T	—	likely benign
rs1028198150	3:33,038,770	A/G	—	likely benign
rs751382165	3:33,038,777	C/T	—	likely benign
rs1696348575	3:33,038,784	C/T	—	uncertain significance
rs2125442900	3:33,038,786	C/T	—	likely benign
rs199694629	3:33,038,787	C/G	—	likely pathogenic
rs201807974	3:33,038,788	G/A	—	uncertain significance
rs72555371	3:33,038,799	T/G	missense variant	pathogenic
rs72555373	3:33,038,800	A/T	missense variant	pathogenic
rs398123351	3:33,038,802	C/T	missense variant	pathogenic
rs794727165	3:33,038,803	G/T	missense variant	pathogenic
rs373181758	3:33,038,804	G/A	—	likely benign
rs2125442941	3:33,038,807	A/G	—	likely benign
rs2471199333	3:33,038,810	G/A	—	likely benign
rs1291361971	3:33,038,818	C/T	—	uncertain significance
rs2125442971	3:33,038,819	A/G	—	likely benign
rs778375259	3:33,038,825	C/T	—	pathogenic
rs2471199391	3:33,038,829	A/C	—	likely pathogenic
rs2125442981	3:33,038,832	T/C	—	likely pathogenic
rs1696352042	3:33,038,840	G/C	—	likely benign
rs772741040	3:33,038,844	G/A	—	likely benign
rs766907320	3:33,038,846	G/C	—	likely benign
rs768696404	3:33,038,848	G/C	—	likely benign
rs1696353148	3:33,038,852	C/G	—	likely benign
rs7650543	3:33,042,713	C/G	—	—
rs9814670	3:33,053,069	A/G	intron variant	—
rs62252531	3:33,055,315	G/A	—	benign
rs73826338	3:33,055,360	G/A	—	benign

Showing 100 of 863 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.