ALG14

ALG14 UDP-N-acetylglucosaminyltransferase subunit

Summary

This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

Known Variants140 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs767036165	1:95,448,642	C/T	—	uncertain significance
rs1050499608	1:95,448,650	G/A	—	likely benign
rs754944986	1:95,448,657	G/A	—	uncertain significance
rs2525552109	1:95,448,662	G/A	—	likely benign
rs2525552113	1:95,448,664	G/A	—	uncertain significance
rs200959923	1:95,448,674	T/C	—	likely benign
rs771908149	1:95,448,683	C/T	—	likely benign
rs1014644772	1:95,448,684	G/A	—	uncertain significance
rs770065162	1:95,448,713	A/T	—	uncertain significance
rs775514355	1:95,448,723	A/G	—	uncertain significance
rs148202016	1:95,448,731	G/A	—	likely benign
rs2100709015	1:95,448,732	G/C	—	uncertain significance
rs764533791	1:95,448,734	C/G	—	uncertain significance
rs199846785	1:95,448,737	G/A	—	likely benign
rs767937526	1:95,448,743	C/T	—	likely benign
rs750820046	1:95,448,744	G/A	—	uncertain significance
rs957188576	1:95,448,748	C/T	—	uncertain significance
rs766184799	1:95,448,750	A/C	—	uncertain significance
rs373069354	1:95,448,751	C/T	—	uncertain significance
rs202102263	1:95,448,752	A/C	—	likely benign
rs776109748	1:95,448,753	C/A	—	uncertain significance
rs1279524858	1:95,448,754	G/T	—	uncertain significance
rs1057521513	1:95,448,759	A/T	—	uncertain significance
rs2525552572	1:95,448,766	C/A	—	uncertain significance
rs145148882	1:95,448,770	G/A	—	likely benign
rs1431105428	1:95,448,780	A/C	—	uncertain significance
rs992880500	1:95,448,801	A/G	—	uncertain significance
rs2525552720	1:95,448,805	C/T	—	uncertain significance
rs746850097	1:95,448,807	A/G	—	uncertain significance
rs769984980	1:95,448,809	G/A	—	likely benign
rs2100709222	1:95,448,819	G/A	—	uncertain significance
rs2100709244	1:95,448,832	G/A	—	uncertain significance
rs1308914191	1:95,448,835	C/T	—	uncertain significance
rs372801574	1:95,448,851	G/A	—	likely benign
rs1672547192	1:95,448,860	C/T	—	likely benign
rs139005007	1:95,448,861	A/C	—	uncertain significance
rs946253637	1:95,448,862	C/T	—	uncertain significance
rs764786734	1:95,448,868	A/G	—	likely benign
rs2298162	1:95,449,033	T/C	—	benign
rs2391388	1:95,485,825	A/C	intron variant	—
rs149850028	1:95,492,472	C/T	—	likely benign
rs145885017	1:95,492,666	T/C	—	likely benign
rs2525686691	1:95,492,668	G/A	—	likely benign
rs370637303	1:95,492,670	G/C	—	likely benign
rs200935531	1:95,492,671	A/G	—	likely benign
rs1571621391	1:95,492,680	C/T	—	uncertain significance
rs2525686758	1:95,492,684	C/T	—	uncertain significance
rs374376710	1:95,492,699	C/T	—	uncertain significance
rs2525686851	1:95,492,703	G/T	—	uncertain significance
rs2100771746	1:95,492,704	T/G	—	uncertain significance
rs2100771768	1:95,492,709	T/C	—	likely benign
rs2100771798	1:95,492,712	G/A	—	likely benign
rs150452802	1:95,492,716	A/T	—	uncertain significance
rs2525687119	1:95,492,728	A/G	—	uncertain significance
rs1553228218	1:95,492,734	T/G	—	uncertain significance
rs372809921	1:95,492,751	G/A	—	likely benign
rs1204743597	1:95,492,768	G/C	—	uncertain significance
rs2525687364	1:95,492,770	T/C	—	likely benign
rs1673847852	1:95,492,773	A/G	—	uncertain significance
rs976380616	1:95,492,777	C/T	—	uncertain significance
rs199689080	1:95,492,779	C/T	—	uncertain significance
rs777101530	1:95,492,780	G/A	—	uncertain significance
rs1673848834	1:95,492,782	C/T	—	uncertain significance
rs746270285	1:95,492,792	T/C	—	uncertain significance
rs201781289	1:95,492,794	C/T	—	uncertain significance
rs367570129	1:95,492,795	G/A	stop gained	pathogenic
rs1230132413	1:95,492,800	A/T	—	uncertain significance
rs199810632	1:95,492,814	A/G	—	benign
rs1673851343	1:95,492,818	T/C	—	uncertain significance
rs767492224	1:95,492,820	G/A	—	likely benign
rs1358189673	1:95,501,447	A/G	—	likely benign
rs6675668	1:95,515,637	T/G	intron variant	—
rs151088933	1:95,530,411	T/C	—	likely benign
rs2525846683	1:95,530,413	G/A	—	likely benign
rs2100841130	1:95,530,418	T/C	—	uncertain significance
rs143242417	1:95,530,422	C/A	—	uncertain significance
rs2100841148	1:95,530,423	A/G	—	uncertain significance
rs1360024892	1:95,530,430	T/C	—	uncertain significance
rs775152763	1:95,530,433	G/C	—	uncertain significance
rs768365586	1:95,530,447	C/T	—	uncertain significance
rs200774756	1:95,530,448	G/T	—	likely benign
rs767402341	1:95,530,462	G/T	—	uncertain significance
rs1192311417	1:95,530,465	T/C	—	uncertain significance
rs766071997	1:95,530,475	T/G	—	likely benign
rs753730661	1:95,530,476	G/T	—	likely benign
rs2525847547	1:95,530,488	A/T	—	uncertain significance
rs769114543	1:95,530,490	C/T	—	conflicting classifications of pathogenicity
rs1006151623	1:95,530,500	A/C	—	uncertain significance
rs368626631	1:95,530,507	T/C	—	uncertain significance
rs1373281011	1:95,530,510	T/C	—	uncertain significance
rs1557657770	1:95,530,511	G/A	—	uncertain significance
rs730882050	1:95,530,516	G/A	missense variant	pathogenic
rs753195443	1:95,530,519	G/A	—	uncertain significance
rs781738381	1:95,530,520	A/G	—	uncertain significance
rs138996965	1:95,530,528	T/C	—	uncertain significance
rs577399329	1:95,530,529	T/C	—	uncertain significance
rs780277809	1:95,530,531	G/C	—	uncertain significance
rs141065009	1:95,530,539	C/T	—	benign
rs768248972	1:95,530,545	C/T	—	likely benign
rs778566822	1:95,530,547	G/C	—	uncertain significance

Showing 100 of 140 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.