ALG6

ALG6 alpha-1,3-glucosyltransferase

Summary

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]

Known Variants611 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886046470	1:63,833,345	C/G	—	conflicting classifications of pathogenicity
rs1333912773	1:63,833,368	T/C	—	uncertain significance
rs3737897	1:63,833,436	C/G	—	benign
rs3737898	1:63,833,450	G/T	—	benign
rs377635941	1:63,833,473	C/G	—	likely benign
rs75502742	1:63,833,574	G/T	—	benign
rs114299980	1:63,836,345	T/C	—	likely benign
rs183861757	1:63,836,430	T/C	—	conflicting classifications of pathogenicity
rs924330655	1:63,836,453	A/G	—	likely benign
rs1054104046	1:63,836,508	A/G	—	uncertain significance
rs34542411	1:63,836,513	C/G	—	benign
rs188685870	1:63,836,521	C/T	—	uncertain significance
rs116034504	1:63,836,528	T/G	—	likely benign
rs1016079273	1:63,836,529	C/T	—	uncertain significance
rs562934427	1:63,836,649	A/G	—	uncertain significance
rs1387214955	1:63,836,650	T/C	—	likely pathogenic
rs140944848	1:63,836,652	G/A	—	uncertain significance
rs2523646147	1:63,836,654	G/T	—	uncertain significance
rs2100378404	1:63,836,657	A/G	—	likely benign
rs752858908	1:63,836,660	G/A	—	pathogenic
rs1160519305	1:63,836,663	C/T	—	likely benign
rs1439550994	1:63,836,664	T/C	—	likely benign
rs1463958522	1:63,836,667	A/G	—	uncertain significance
rs2523646252	1:63,836,668	T/C	—	uncertain significance
rs2523646265	1:63,836,671	C/G	—	uncertain significance
rs2100378424	1:63,836,672	A/C	—	likely benign
rs1456036206	1:63,836,674	T/C	—	uncertain significance
rs1647907073	1:63,836,675	A/C	—	likely benign
rs151277583	1:63,836,684	A/C	—	uncertain significance
rs1407217511	1:63,836,685	A/C	—	uncertain significance
rs1647907578	1:63,836,692	T/A	—	uncertain significance
rs2100378459	1:63,836,699	A/C	—	likely benign
rs755933716	1:63,836,700	C/T	—	pathogenic
rs1287725303	1:63,836,701	G/A	—	conflicting classifications of pathogenicity
rs373800951	1:63,836,702	A/G	—	likely benign
rs2523646410	1:63,836,705	G/A	—	likely pathogenic
rs1263563063	1:63,836,708	A/G	—	likely benign
rs1647908648	1:63,836,711	G/T	—	likely benign
rs771618945	1:63,836,731	G/A	—	likely pathogenic
rs2100378518	1:63,836,737	C/T	—	likely benign
rs772902612	1:63,836,738	A/G	—	likely benign
rs746703376	1:63,836,739	T/G	—	likely benign
rs2523646494	1:63,836,742	T/G	—	likely benign
rs2523646496	1:63,836,743	T/A	—	likely benign
rs1282350471	1:63,836,747	G/C	—	likely benign
rs1234798604	1:63,836,748	G/A	—	likely benign
rs376116153	1:63,836,749	T/C	—	likely benign
rs11579622	1:63,836,806	A/G	—	benign
rs11577809	1:63,836,819	T/G	—	benign
rs2523706436	1:63,862,164	C/A	—	likely benign
rs2523706445	1:63,862,175	T/G	—	likely benign
rs371057475	1:63,862,176	G/T	—	likely benign
rs2100404896	1:63,862,188	T/C	—	likely benign
rs768726497	1:63,862,191	T/C	—	likely benign
rs770413804	1:63,862,196	C/T	—	uncertain significance
rs149990175	1:63,862,197	G/A	—	likely benign
rs1557585842	1:63,862,201	A/C	—	uncertain significance
rs750689981	1:63,862,202	T/C	—	uncertain significance
rs2100404930	1:63,862,204	T/A	—	uncertain significance
rs1450453413	1:63,862,205	T/C	—	uncertain significance
rs1487950418	1:63,862,208	G/A	—	uncertain significance
rs1648831627	1:63,862,215	T/G	—	pathogenic
rs759308812	1:63,862,222	C/T	—	pathogenic
rs1648831785	1:63,862,224	G/A	—	likely benign
rs398124258	1:63,862,228	C/A	—	uncertain significance
rs2100404957	1:63,862,230	C/T	—	likely benign
rs2100404960	1:63,862,231	T/C	—	uncertain significance
rs559219690	1:63,862,238	A/G	—	uncertain significance
rs2523706609	1:63,862,239	A/G	—	likely benign
rs2523706618	1:63,862,245	T/A	—	likely benign
rs752563803	1:63,862,251	T/C	—	likely benign
rs758344353	1:63,862,252	T/A	—	uncertain significance
rs2523706655	1:63,862,255	C/T	—	uncertain significance
rs201074540	1:63,862,256	C/T	—	uncertain significance
rs751004049	1:63,862,257	G/A	—	uncertain significance
rs1557585860	1:63,862,273	G/A	—	pathogenic
rs374146302	1:63,862,275	T/C	—	conflicting classifications of pathogenicity
rs902593542	1:63,862,276	A/G	—	likely benign
rs2523706734	1:63,862,282	A/G	—	likely benign
rs780696397	1:63,862,283	A/G	—	likely benign
rs1246184334	1:63,862,287	G/C	—	likely benign
rs79290725	1:63,862,416	T/C	—	likely benign
rs536808870	1:63,867,908	C/G	—	benign
rs1213992277	1:63,867,910	T/A	—	likely benign
rs751572798	1:63,867,916	C/T	—	likely benign
rs2100412747	1:63,867,920	T/C	—	likely benign
rs2523723184	1:63,867,924	G/A	—	likely pathogenic
rs2523723187	1:63,867,925	G/A	—	pathogenic
rs780528545	1:63,867,928	T/A	—	pathogenic
rs1330438032	1:63,867,935	A/C	—	uncertain significance
rs2523723215	1:63,867,937	C/G	—	uncertain significance
rs1644468589	1:63,867,949	T/C	—	likely benign
rs2100412804	1:63,867,958	T/C	—	likely benign
rs748752494	1:63,867,965	T/C	—	likely benign
rs1440836116	1:63,867,970	T/C	—	likely benign
rs2100412827	1:63,867,975	C/T	—	uncertain significance
rs187446493	1:63,867,976	A/T	—	likely benign
rs773292757	1:63,867,984	C/T	—	uncertain significance
rs2523723561	1:63,867,991	T/C	—	likely benign
rs1644468789	1:63,867,993	A/T	—	uncertain significance

Showing 100 of 611 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.