ALG12

ALG12 alpha-1,6-mannosyltransferase

Summary

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]

Known Variants470 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886057612	22:50,296,995	C/A	—	uncertain significance
rs1324817015	22:50,297,000	G/T	—	uncertain significance
rs77163946	22:50,297,002	G/T	—	uncertain significance
rs186563620	22:50,297,011	C/T	—	uncertain significance
rs550904403	22:50,297,093	G/A	—	uncertain significance
rs568473076	22:50,297,123	C/T	—	uncertain significance
rs769523769	22:50,297,132	C/T	—	uncertain significance
rs116765369	22:50,297,206	C/T	—	benign
rs760147302	22:50,297,210	A/C	—	uncertain significance
rs1329225644	22:50,297,236	G/A	—	uncertain significance
rs76848348	22:50,297,246	C/T	—	benign
rs757403591	22:50,297,277	G/A	—	uncertain significance
rs2060526664	22:50,297,355	G/T	—	uncertain significance
rs1321	22:50,297,435	T/C	—	benign
rs531771418	22:50,297,453	G/A	—	uncertain significance
rs138804791	22:50,297,485	C/G	—	uncertain significance
rs2060527471	22:50,297,486	T/G	—	uncertain significance
rs2519256825	22:50,297,487	C/T	—	likely benign
rs2060527495	22:50,297,490	G/A	—	uncertain significance
rs541941913	22:50,297,492	C/T	—	likely benign
rs778688714	22:50,297,493	G/A	—	uncertain significance
rs928325336	22:50,297,495	C/T	—	likely benign
rs938305311	22:50,297,496	C/T	—	uncertain significance
rs745477655	22:50,297,497	G/A	—	uncertain significance
rs772352960	22:50,297,501	G/A	—	conflicting classifications of pathogenicity
rs886057613	22:50,297,504	C/T	—	uncertain significance
rs1569172835	22:50,297,507	C/G	—	uncertain significance
rs775856400	22:50,297,514	A/G	—	likely pathogenic
rs2519256896	22:50,297,518	C/A	—	uncertain significance
rs191342997	22:50,297,525	T/C	—	likely benign
rs142815771	22:50,297,526	G/C	—	uncertain significance
rs147000290	22:50,297,528	C/G	—	uncertain significance
rs763171796	22:50,297,539	C/T	—	uncertain significance
rs767232423	22:50,297,540	G/A	—	likely benign
rs2060527901	22:50,297,542	T/C	—	uncertain significance
rs756187206	22:50,297,549	G/A	—	likely benign
rs546031490	22:50,297,563	G/A	—	likely benign
rs745510179	22:50,297,564	G/T	—	uncertain significance
rs2519256972	22:50,297,567	C/T	—	likely benign
rs2519256990	22:50,297,584	T/C	—	uncertain significance
rs367671008	22:50,297,590	C/T	—	uncertain significance
rs12163163	22:50,297,591	G/A	—	conflicting classifications of pathogenicity
rs777096831	22:50,297,593	C/T	—	conflicting classifications of pathogenicity
rs762256657	22:50,297,594	G/A	—	likely benign
rs769869200	22:50,297,600	C/G	—	likely benign
rs1215146135	22:50,297,606	C/T	—	likely benign
rs148062469	22:50,297,607	C/T	—	uncertain significance
rs141814567	22:50,297,608	G/A	—	uncertain significance
rs1197809127	22:50,297,609	G/T	—	uncertain significance
rs996114708	22:50,297,614	T/C	—	uncertain significance
rs760527951	22:50,297,615	G/A	—	likely benign
rs763935444	22:50,297,618	C/T	—	likely benign
rs374858734	22:50,297,622	T/C	—	uncertain significance
rs1245695770	22:50,297,623	A/G	—	uncertain significance
rs2060528499	22:50,297,625	A/G	—	uncertain significance
rs1327215369	22:50,297,627	G/C	—	likely benign
rs2060528558	22:50,297,633	G/C	—	likely benign
rs2519257132	22:50,297,636	C/T	—	likely benign
rs779725238	22:50,297,645	C/A	—	likely benign
rs747421881	22:50,297,646	G/A	—	uncertain significance
rs781494329	22:50,297,651	C/T	—	uncertain significance
rs748669303	22:50,297,653	T/C	—	uncertain significance
rs150614794	22:50,297,654	G/A	—	conflicting classifications of pathogenicity
rs2060528902	22:50,297,655	A/T	—	uncertain significance
rs878852984	22:50,297,665	T/C	—	uncertain significance
rs2519257214	22:50,297,666	G/A	—	likely benign
rs1173603082	22:50,297,669	T/C	—	likely benign
rs2519257232	22:50,297,673	A/G	—	uncertain significance
rs1453411608	22:50,297,679	C/A	—	uncertain significance
rs368420135	22:50,297,681	T/C	—	likely benign
rs771112093	22:50,297,687	C/T	—	likely benign
rs759794733	22:50,297,688	G/A	—	uncertain significance
rs2060529224	22:50,297,689	G/C	—	uncertain significance
rs2519257275	22:50,297,690	C/G	—	uncertain significance
rs1195252946	22:50,297,695	C/T	—	uncertain significance
rs201717237	22:50,297,709	T/C	—	uncertain significance
rs375154127	22:50,297,710	C/T	—	uncertain significance
rs121907935	22:50,297,711	G/A	synonymous variant	likely benign
rs142027212	22:50,297,714	C/G	—	uncertain significance
rs550573331	22:50,297,722	A/G	—	likely benign
rs915149632	22:50,297,730	T/C	—	likely benign
rs2147579777	22:50,297,731	G/T	—	likely benign
rs767126536	22:50,297,807	G/A	—	likely benign
rs753109798	22:50,297,809	G/C	—	likely benign
rs1484531183	22:50,297,813	T/G	—	likely benign
rs756526998	22:50,297,820	A/C	—	likely benign
rs777963575	22:50,297,822	C/A	—	uncertain significance
rs755033821	22:50,297,834	C/T	—	uncertain significance
rs779189579	22:50,297,835	G/A	—	likely benign
rs146341718	22:50,297,841	G/T	—	likely benign
rs2060530260	22:50,297,844	T/C	—	uncertain significance
rs772459313	22:50,297,849	G/C	—	uncertain significance
rs553349150	22:50,297,854	C/T	—	uncertain significance
rs773892105	22:50,297,873	C/T	—	uncertain significance
rs995608705	22:50,297,874	G/A	—	likely benign
rs759024738	22:50,297,882	C/T	—	uncertain significance
rs766969187	22:50,297,883	G/A	—	likely benign
rs3922872	22:50,297,888	T/C	—	benign
rs2060530690	22:50,297,889	G/A	—	likely benign
rs764534900	22:50,297,894	G/A	—	likely benign

Showing 100 of 470 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.