ALG9

ALG9 alpha-1,2-mannosyltransferase

Summary

This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Known Variants272 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2850248	11:111,644,824	C/A	intron variant	—
rs10502148	11:111,647,998	C/T	regulatory region variant	—
rs618031	11:111,648,863	A/C	regulatory region variant	—
rs541035545	11:111,652,980	C/G	—	uncertain significance
rs1946041440	11:111,653,323	T/C	—	uncertain significance
rs530143933	11:111,653,364	A/G	—	uncertain significance
rs114397288	11:111,653,371	T/G	—	likely benign
rs569799426	11:111,653,602	G/T	—	uncertain significance
rs186742619	11:111,653,650	T/C	—	uncertain significance
rs78243190	11:111,653,698	A/G	—	uncertain significance
rs939244636	11:111,653,908	C/T	—	uncertain significance
rs528920657	11:111,653,909	G/A	—	uncertain significance
rs146182772	11:111,653,946	C/T	—	uncertain significance
rs547384257	11:111,653,996	T/A	—	uncertain significance
rs886047660	11:111,654,042	G/A	—	uncertain significance
rs782731018	11:111,654,214	T/A	—	uncertain significance
rs139048490	11:111,654,378	A/G	—	likely benign
rs1946165207	11:111,654,473	C/T	—	uncertain significance
rs1591752692	11:111,654,524	C/G	—	uncertain significance
rs886047661	11:111,654,529	A/G	—	uncertain significance
rs376483443	11:111,654,647	T/A	—	uncertain significance
rs2554994	11:111,654,648	T/A	—	uncertain significance
rs886047667	11:111,654,649	A/T	—	uncertain significance
rs201995459	11:111,654,664	C/A	—	uncertain significance
rs146821834	11:111,654,678	A/T	—	uncertain significance
rs189536081	11:111,654,707	A/C	—	uncertain significance
rs532591210	11:111,654,779	C/T	—	uncertain significance
rs886047673	11:111,654,782	A/C	—	uncertain significance
rs185264895	11:111,654,834	T/C	—	uncertain significance
rs886047674	11:111,654,888	T/C	—	uncertain significance
rs116530919	11:111,654,891	T/G	—	uncertain significance
rs45452093	11:111,655,007	G/A	—	uncertain significance
rs181231005	11:111,655,144	T/C	—	uncertain significance
rs45620134	11:111,655,273	C/T	—	benign
rs772136205	11:111,655,289	T/G	—	uncertain significance
rs886047676	11:111,655,355	T/C	—	uncertain significance
rs186477879	11:111,655,399	G/A	—	uncertain significance
rs367569393	11:111,655,434	T/A	—	uncertain significance
rs563719515	11:111,655,441	C/A	—	conflicting classifications of pathogenicity
rs116003998	11:111,655,450	A/G	—	benign
rs117091304	11:111,655,497	T/G	—	uncertain significance
rs117488631	11:111,655,514	G/A	—	uncertain significance
rs782678326	11:111,655,585	A/G	—	uncertain significance
rs143933458	11:111,655,701	G/C	—	uncertain significance
rs912924184	11:111,655,810	T/C	—	uncertain significance
rs782298169	11:111,655,814	G/A	—	uncertain significance
rs577487864	11:111,655,824	T/C	—	uncertain significance
rs114406340	11:111,655,901	G/A	—	likely benign
rs140187723	11:111,656,150	G/A	—	likely benign
rs147670080	11:111,656,215	G/T	—	uncertain significance
rs528387467	11:111,656,298	T/C	—	uncertain significance
rs559698025	11:111,656,333	T/C	—	uncertain significance
rs886047679	11:111,656,348	T/C	—	uncertain significance
rs886047680	11:111,656,358	A/G	—	uncertain significance
rs1414677485	11:111,656,395	G/C	—	uncertain significance
rs886047681	11:111,656,589	G/A	—	uncertain significance
rs536072357	11:111,656,598	A/G	—	uncertain significance
rs886047682	11:111,656,756	T/C	—	uncertain significance
rs781928817	11:111,656,807	C/T	—	uncertain significance
rs886047683	11:111,656,815	C/T	—	uncertain significance
rs782183793	11:111,656,816	G/A	—	uncertain significance
rs886047684	11:111,656,878	C/T	—	uncertain significance
rs781789551	11:111,656,892	T/C	—	uncertain significance
rs984910253	11:111,657,044	C/T	—	uncertain significance
rs373830702	11:111,657,158	C/T	—	uncertain significance
rs781849410	11:111,657,159	G/A	—	uncertain significance
rs77191760	11:111,657,184	G/A	—	likely benign
rs201194863	11:111,657,186	A/G	—	conflicting classifications of pathogenicity
rs374817147	11:111,657,193	A/G	—	conflicting classifications of pathogenicity
rs1555064204	11:111,657,198	G/A	—	uncertain significance
rs782330121	11:111,657,210	A/G	—	uncertain significance
rs782159641	11:111,657,213	G/C	—	uncertain significance
rs150225347	11:111,657,216	C/A	—	conflicting classifications of pathogenicity
rs190908773	11:111,657,218	T/C	—	uncertain significance
rs370612060	11:111,657,225	C/T	—	uncertain significance
rs199995104	11:111,657,228	G/A	—	conflicting classifications of pathogenicity
rs368253352	11:111,657,259	A/G	—	likely benign
rs201748177	11:111,657,292	T/C	—	likely benign
rs625477	11:111,661,686	A/G	—	—
rs12363917	11:111,664,401	C/T	regulatory region variant	—
rs631318	11:111,677,695	A/T	intron variant	—
rs45475694	11:111,680,127	G/A	—	likely benign
rs140366843	11:111,680,329	C/G	—	likely benign
rs1052513792	11:111,680,348	T/C	—	likely benign
rs374642818	11:111,680,358	G/A	—	likely benign
rs782742740	11:111,680,418	T/C	—	uncertain significance
rs782084496	11:111,680,440	G/A	—	conflicting classifications of pathogenicity
rs2276263	11:111,680,441	G/A	—	conflicting classifications of pathogenicity
rs2497086538	11:111,680,455	T/C	—	uncertain significance
rs782340438	11:111,680,456	G/C	—	likely benign
rs12575909	11:111,680,496	A/G	—	uncertain significance
rs115136012	11:111,681,006	T/C	—	uncertain significance
rs567436107	11:111,682,031	C/T	—	—
rs55845017	11:111,688,997	A/G	intron variant	—
rs608091	11:111,693,654	G/A	intron variant	—
rs610437	11:111,696,440	T/C	—	benign
rs229283	11:111,697,097	A/C	—	—
rs2496902376	11:111,706,892	C/G	—	uncertain significance
rs121908022	11:111,706,902	C/T	missense variant	uncertain significance
rs926023630	11:111,706,914	G/C	—	uncertain significance

Showing 100 of 272 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.