GUSB

glucuronidase beta

Summary

This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]

Known Variants528 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs190201470	7:65,425,676	A/G	—	uncertain significance
rs77293332	7:65,425,712	T/C	—	benign
rs1790427973	7:65,425,730	C/T	—	uncertain significance
rs568655640	7:65,425,736	T/C	—	uncertain significance
rs536903750	7:65,425,790	T/C	—	uncertain significance
rs372605666	7:65,425,829	G/A	—	benign
rs751073317	7:65,425,861	C/A	—	likely benign
rs769514976	7:65,425,872	T/C	—	uncertain significance
rs9530	7:65,425,894	A/G	missense variant	benign
rs772478693	7:65,425,895	G/A	—	likely benign
rs776024156	7:65,425,898	T/G	—	uncertain significance
rs764493374	7:65,425,911	T/C	—	likely benign
rs1790443878	7:65,425,913	G/A	—	conflicting classifications of pathogenicity
rs2484733147	7:65,425,914	T/C	—	likely benign
rs1790444883	7:65,425,928	A/G	—	uncertain significance
rs1790445095	7:65,425,929	G/A	—	likely benign
rs2484733253	7:65,425,935	A/G	—	likely benign
rs751075889	7:65,425,939	C/G	—	uncertain significance
rs1249207867	7:65,425,944	T/C	—	likely benign
rs756035101	7:65,425,953	A/C	—	uncertain significance
rs2484733488	7:65,425,954	A/G	—	uncertain significance
rs1790449347	7:65,425,957	T/G	—	uncertain significance
rs121918184	7:65,425,959	C/A	missense variant	pathogenic
rs1236992554	7:65,425,960	C/T	—	pathogenic
rs2484733592	7:65,425,963	T/C	—	uncertain significance
rs2484733748	7:65,425,975	A/T	—	pathogenic
rs779147312	7:65,425,983	C/T	—	likely benign
rs121918172	7:65,425,984	G/A	missense variant	pathogenic
rs1372686758	7:65,425,986	T/C	—	likely benign
rs1583879945	7:65,426,008	C/T	—	pathogenic
rs121918176	7:65,426,009	G/A	missense variant	pathogenic
rs2484734152	7:65,426,011	G/A	—	uncertain significance
rs1250112198	7:65,426,020	C/G	—	conflicting classifications of pathogenicity
rs1325465494	7:65,426,024	T/C	—	uncertain significance
rs1790456341	7:65,426,031	C/T	—	likely benign
rs1790456990	7:65,426,036	G/A	—	likely benign
rs552724524	7:65,426,043	C/T	—	likely benign
rs765983374	7:65,426,044	G/A	—	uncertain significance
rs751161248	7:65,426,046	C/T	—	likely benign
rs1166580286	7:65,426,048	G/C	—	uncertain significance
rs767115386	7:65,426,049	T/C	—	likely benign
rs879010457	7:65,426,054	C/A	—	likely benign
rs756087154	7:65,426,061	A/G	—	likely benign
rs763997663	7:65,426,068	A/G	—	likely benign
rs1165609185	7:65,426,070	A/T	—	likely benign
rs1386704925	7:65,429,300	T/G	—	likely benign
rs545446158	7:65,429,301	G/A	—	likely benign
rs1459112993	7:65,429,317	A/G	—	likely benign
rs1251087003	7:65,429,328	C/T	—	uncertain significance
rs200228580	7:65,429,329	G/A	—	likely benign
rs141430018	7:65,429,347	C/T	—	benign
rs757015172	7:65,429,352	C/T	—	conflicting classifications of pathogenicity
rs765136502	7:65,429,357	A/G	—	uncertain significance
rs150304382	7:65,429,358	C/T	—	uncertain significance
rs1061361	7:65,429,359	G/A	—	benign
rs121918183	7:65,429,369	C/A	missense variant	pathogenic
rs747104326	7:65,429,370	G/A	—	uncertain significance
rs1473884638	7:65,429,385	C/T	—	uncertain significance
rs1287239412	7:65,429,395	C/T	—	likely benign
rs2484748996	7:65,429,396	T/C	—	uncertain significance
rs775084641	7:65,429,436	G/A	—	likely benign
rs2484749278	7:65,429,446	C/T	—	likely pathogenic
rs763536228	7:65,429,448	A/G	—	uncertain significance
rs563449417	7:65,429,449	G/A	—	likely benign
rs2484749311	7:65,429,452	T/C	—	uncertain significance
rs1790700569	7:65,429,454	C/T	—	likely benign
rs776105120	7:65,429,455	A/G	—	likely benign
rs1790700977	7:65,429,456	A/G	—	likely benign
rs1268354062	7:65,429,457	G/C	—	likely benign
rs761874655	7:65,429,459	C/A	—	likely benign
rs1880556	7:65,432,544	T/A	—	—
rs1880555	7:65,432,567	T/C	—	benign
rs749695052	7:65,432,701	A/G	—	likely benign
rs1790927145	7:65,432,703	C/T	—	likely benign
rs779693654	7:65,432,709	A/G	—	likely benign
rs1344332366	7:65,432,720	G/A	—	pathogenic
rs776242697	7:65,432,727	C/T	—	likely benign
rs1291640632	7:65,432,729	C/G	—	uncertain significance
rs761204529	7:65,432,736	C/T	—	likely benign
rs769788461	7:65,432,748	A/G	—	likely benign
rs2484764476	7:65,432,753	C/T	—	uncertain significance
rs377519272	7:65,432,754	G/A	synonymous variant	pathogenic
rs2484764522	7:65,432,757	C/G	—	uncertain significance
rs762859080	7:65,432,766	G/A	—	likely benign
rs1161170731	7:65,432,769	C/T	—	likely benign
rs786205674	7:65,432,785	T/C	missense variant	pathogenic
rs2484764776	7:65,432,788	C/T	—	pathogenic
rs2484764815	7:65,432,790	G/A	—	likely benign
rs2484764844	7:65,432,797	A/G	—	uncertain significance
rs759880257	7:65,432,810	G/C	—	uncertain significance
rs1282778009	7:65,432,835	C/T	—	likely benign
rs794726973	7:65,432,837	C/T	missense variant	pathogenic
rs752845837	7:65,432,838	G/A	—	likely benign
rs981387734	7:65,432,841	G/A	—	likely benign
rs201928248	7:65,432,844	G/T	—	uncertain significance
rs121918179	7:65,432,850	C/T	stop gained	pathogenic
rs746198220	7:65,432,856	G/A	—	likely benign
rs2484765658	7:65,432,862	G/A	—	likely benign
rs1159683641	7:65,432,865	G/T	—	uncertain significance
rs1333588701	7:65,432,886	A/G	—	likely benign

Showing 100 of 528 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.