GBE1

1,4-alpha-glucan branching enzyme 1

Summary

The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]

Known Variants760 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886058898	3:81,538,960	C/G	—	uncertain significance
rs886058899	3:81,539,000	A/G	—	uncertain significance
rs143820392	3:81,539,003	C/T	—	uncertain significance
rs548648836	3:81,539,013	C/G	—	uncertain significance
rs113749146	3:81,539,035	A/T	—	benign
rs145934828	3:81,539,064	T/G	—	uncertain significance
rs750772386	3:81,539,090	C/T	—	uncertain significance
rs571158601	3:81,539,092	C/T	—	uncertain significance
rs771301034	3:81,539,098	G/A	—	uncertain significance
rs138608612	3:81,539,163	T/C	—	uncertain significance
rs1702416693	3:81,539,170	A/T	—	uncertain significance
rs141214861	3:81,539,250	G/A	—	likely benign
rs748963117	3:81,539,332	A/G	—	uncertain significance
rs846	3:81,539,382	C/T	—	benign
rs9820089	3:81,539,406	G/T	—	benign
rs1702420526	3:81,539,514	A/T	—	uncertain significance
rs1377035925	3:81,539,546	A/G	—	uncertain significance
rs371081815	3:81,539,553	C/T	—	likely benign
rs1400238963	3:81,539,560	A/C	—	uncertain significance
rs1702421263	3:81,539,561	A/G	—	likely benign
rs775617188	3:81,539,564	C/T	—	likely benign
rs552335025	3:81,539,565	G/A	—	uncertain significance
rs1337608522	3:81,539,572	C/A	—	uncertain significance
rs1195429833	3:81,539,574	A/G	—	uncertain significance
rs577633008	3:81,539,579	C/T	—	likely benign
rs1209123501	3:81,539,586	A/T	—	pathogenic
rs1257283055	3:81,539,587	T/C	—	uncertain significance
rs192877602	3:81,539,593	C/T	—	conflicting classifications of pathogenicity
rs2471623083	3:81,539,594	C/A	—	likely benign
rs1173853844	3:81,539,600	G/C	—	uncertain significance
rs2106796993	3:81,539,609	G/A	—	likely benign
rs754607405	3:81,539,611	A/G	—	uncertain significance
rs185009612	3:81,539,618	C/G	—	likely benign
rs1316205150	3:81,539,619	G/A	—	likely benign
rs1576117487	3:81,539,624	A/C	—	likely benign
rs1702422198	3:81,539,633	G/A	—	likely benign
rs3103797	3:81,542,808	T/C	—	benign
rs1576118835	3:81,542,964	C/G	—	likely benign
rs2106802092	3:81,542,965	C/T	—	likely benign
rs2471627183	3:81,542,968	C/A	—	likely benign
rs1702468173	3:81,542,972	C/A	—	likely benign
rs559306420	3:81,542,978	C/T	—	likely benign
rs76762531	3:81,543,120	A/G	—	likely benign
rs820273	3:81,547,966	A/G	—	benign
rs753585198	3:81,548,241	A/T	—	likely benign
rs1373297344	3:81,548,242	T/C	—	likely benign
rs375596642	3:81,548,259	A/G	—	likely pathogenic
rs2106809795	3:81,548,260	C/T	—	pathogenic
rs2471633199	3:81,548,273	G/A	—	likely benign
rs758188572	3:81,548,277	C/T	—	uncertain significance
rs202158511	3:81,548,278	G/A	—	conflicting classifications of pathogenicity
rs2106809824	3:81,548,285	A/G	—	likely benign
rs193074572	3:81,548,296	C/T	—	likely benign
rs571448518	3:81,548,297	C/T	—	benign
rs2106809858	3:81,548,303	A/C	—	uncertain significance
rs757815784	3:81,548,309	G/T	—	uncertain significance
rs1250842116	3:81,548,312	A/T	—	likely benign
rs201515305	3:81,548,318	G/A	—	likely benign
rs780527478	3:81,548,321	G/T	—	uncertain significance
rs774275405	3:81,548,324	C/T	—	likely benign
rs761908536	3:81,548,325	A/G	—	uncertain significance
rs2106809904	3:81,548,327	T/C	—	likely benign
rs2471633325	3:81,548,333	A/G	—	likely benign
rs764925200	3:81,548,336	C/T	—	likely benign
rs775419147	3:81,548,343	T/C	—	uncertain significance
rs762480067	3:81,548,348	C/T	—	likely benign
rs377105672	3:81,548,349	G/A	—	conflicting classifications of pathogenicity
rs1234423250	3:81,548,351	T/C	—	likely benign
rs527789602	3:81,548,353	C/T	—	conflicting classifications of pathogenicity
rs2106809976	3:81,548,363	T/C	—	likely benign
rs1039372291	3:81,548,372	T/C	—	likely benign
rs756753229	3:81,548,378	T/A	—	uncertain significance
rs1475447884	3:81,548,379	G/A	—	likely pathogenic
rs2471633372	3:81,548,380	T/C	—	likely pathogenic
rs1474858058	3:81,548,385	C/A	—	likely benign
rs755109777	3:81,548,388	T/C	—	likely benign
rs2471633398	3:81,548,392	G/A	—	likely benign
rs10511103	3:81,548,592	A/C	—	likely benign
rs1703058471	3:81,584,334	C/G	—	likely benign
rs752625236	3:81,584,344	A/T	—	likely pathogenic
rs774160163	3:81,584,345	T/C	—	likely pathogenic
rs544906178	3:81,584,348	C/T	—	likely benign
rs2471673232	3:81,584,351	T/C	—	likely benign
rs2106869498	3:81,584,363	T/C	—	likely benign
rs749994943	3:81,584,370	C/T	—	uncertain significance
rs766935302	3:81,584,371	G/A	stop gained	pathogenic
rs754115580	3:81,584,378	A/G	—	likely benign
rs538664529	3:81,584,380	T/C	—	uncertain significance
rs373557947	3:81,584,387	C/T	—	likely benign
rs758683393	3:81,584,392	T/C	—	uncertain significance
rs137852891	3:81,584,397	T/C	missense variant	pathogenic
rs2471673300	3:81,584,402	G/A	—	likely benign
rs185631651	3:81,584,403	T/C	—	conflicting classifications of pathogenicity
rs769567764	3:81,584,406	A/C	—	uncertain significance
rs1473296120	3:81,584,420	A/G	—	likely benign
rs1044367200	3:81,584,424	G/A	—	uncertain significance
rs572672227	3:81,584,432	A/C	—	uncertain significance
rs748968312	3:81,584,436	G/T	—	uncertain significance
rs768485124	3:81,584,437	C/G	—	likely pathogenic
rs774354874	3:81,584,438	A/T	—	conflicting classifications of pathogenicity

Showing 100 of 760 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.