ALG8

ALG8 alpha-1,3-glucosyltransferase

Summary

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Known Variants270 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2845556	11:77,811,726	C/T	—	benign
rs17136231	11:77,811,863	C/T	—	benign
rs11237385	11:77,811,893	C/T	—	benign
rs1263505	11:77,811,990	T/C	—	benign
rs479612	11:77,812,013	T/C	—	likely benign
rs990677542	11:77,812,035	G/A	—	uncertain significance
rs2496885037	11:77,812,037	A/G	—	likely benign
rs2496885318	11:77,812,051	C/T	—	uncertain significance
rs1859771094	11:77,812,058	A/T	—	likely pathogenic
rs149692072	11:77,812,075	C/T	—	conflicting classifications of pathogenicity
rs2136868362	11:77,812,080	G/C	—	uncertain significance
rs17856033	11:77,812,084	T/C	—	uncertain significance
rs148820351	11:77,812,085	G/A	—	conflicting classifications of pathogenicity
rs766871884	11:77,812,100	C/T	—	likely benign
rs370160245	11:77,812,106	G/C	—	likely benign
rs752979103	11:77,812,124	G/A	—	likely benign
rs758549233	11:77,812,128	G/C	—	uncertain significance
rs777557874	11:77,812,131	T/C	—	conflicting classifications of pathogenicity
rs746756065	11:77,812,148	G/C	—	likely benign
rs1859775779	11:77,812,149	G/A	—	uncertain significance
rs199589882	11:77,812,155	G/A	—	uncertain significance
rs769413308	11:77,812,162	C/G	—	uncertain significance
rs2136868701	11:77,812,198	G/A	—	uncertain significance
rs1859778993	11:77,812,203	T/C	—	uncertain significance
rs2496888329	11:77,812,205	G/A	—	likely benign
rs1218835499	11:77,812,210	T/C	—	uncertain significance
rs2136868764	11:77,812,222	T/C	—	uncertain significance
rs142520385	11:77,812,235	T/C	—	likely benign
rs113969656	11:77,812,239	T/A	—	uncertain significance
rs568134909	11:77,812,244	G/A	—	uncertain significance
rs113781975	11:77,812,323	T/A	—	benign
rs886048685	11:77,815,021	A/G	—	uncertain significance
rs923086678	11:77,815,028	G/A	—	uncertain significance
rs541273577	11:77,815,046	C/T	—	likely benign
rs140716983	11:77,815,047	G/A	—	uncertain significance
rs17825668	11:77,815,059	G/A	—	likely benign
rs2496912846	11:77,815,074	A/C	—	uncertain significance
rs376704970	11:77,815,082	G/C	—	uncertain significance
rs200068321	11:77,815,090	T/C	—	uncertain significance
rs1332741340	11:77,815,108	G/A	—	likely benign
rs141393329	11:77,815,142	G/C	—	likely benign
rs660061	11:77,815,196	C/T	—	benign
rs531081999	11:77,815,392	C/T	—	likely benign
rs747836496	11:77,815,393	G/A	—	likely benign
rs1056737656	11:77,815,404	G/T	—	uncertain significance
rs771566173	11:77,815,407	G/A	—	uncertain significance
rs1859926872	11:77,815,422	G/A	—	uncertain significance
rs1590803789	11:77,815,451	C/G	—	likely benign
rs200575151	11:77,815,466	C/T	—	likely benign
rs146603801	11:77,815,467	G/A	—	conflicting classifications of pathogenicity
rs116971268	11:77,815,689	C/T	—	likely benign
rs111248015	11:77,815,740	T/C	—	benign
rs611331	11:77,815,776	G/A	—	benign
rs112629321	11:77,817,619	A/G	—	benign
rs766278533	11:77,817,846	T/C	—	likely benign
rs398124390	11:77,817,853	C/T	—	uncertain significance
rs372626745	11:77,817,863	G/T	—	uncertain significance
rs535366536	11:77,817,866	T/C	—	likely benign
rs777335080	11:77,817,869	C/G	—	uncertain significance
rs1860054765	11:77,817,871	A/G	—	uncertain significance
rs867450807	11:77,817,897	C/A	missense variant	pathogenic
rs1379263151	11:77,817,908	T/C	—	uncertain significance
rs558379335	11:77,817,914	A/G	—	uncertain significance
rs779340536	11:77,817,915	G/A	—	likely benign
rs772107842	11:77,817,938	A/G	—	uncertain significance
rs766238263	11:77,817,940	C/T	—	uncertain significance
rs376161880	11:77,817,941	G/A	stop gained	pathogenic
rs2496944645	11:77,817,959	C/T	—	uncertain significance
rs112211908	11:77,817,997	A/G	—	benign
rs763527492	11:77,818,011	G/C	—	likely benign
rs11825396	11:77,818,276	T/G	—	benign
rs10751281	11:77,820,168	T/C	—	benign
rs139699905	11:77,820,228	T/C	—	likely benign
rs117633108	11:77,820,316	C/T	—	likely benign
rs2496969429	11:77,820,472	T/C	—	likely benign
rs1590810470	11:77,820,479	A/C	—	likely benign
rs202112771	11:77,820,487	C/A	splice region variant	uncertain significance
rs1860183744	11:77,820,498	A/G	—	uncertain significance
rs1465914844	11:77,820,506	G/A	—	likely benign
rs758856513	11:77,820,533	T/A	—	likely benign
rs373303136	11:77,820,536	G/A	—	likely benign
rs757467776	11:77,820,542	G/T	—	conflicting classifications of pathogenicity
rs2136891638	11:77,820,544	C/T	—	uncertain significance
rs141068538	11:77,820,546	G/C	—	uncertain significance
rs2496971033	11:77,820,548	G/T	—	uncertain significance
rs2496971071	11:77,820,550	G/A	—	uncertain significance
rs767311729	11:77,820,565	C/T	—	uncertain significance
rs150213168	11:77,820,604	G/A	—	uncertain significance
rs761737089	11:77,820,623	C/G	—	uncertain significance
rs772717043	11:77,820,640	T/A	—	uncertain significance
rs760264923	11:77,820,642	T/C	—	likely benign
rs1783515	11:77,820,670	T/C	—	benign
rs1789032	11:77,820,673	T/C	—	benign
rs116370749	11:77,820,748	C/T	—	likely benign
rs145198241	11:77,820,795	C/G	—	likely benign
rs624350	11:77,823,557	G/A	—	benign
rs73501230	11:77,823,608	A/G	—	likely benign
rs112355034	11:77,823,660	A/G	—	benign
rs372919051	11:77,823,686	G/A	—	likely benign
rs377616618	11:77,823,687	C/T	—	uncertain significance

Showing 100 of 270 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.