GM2A

ganglioside GM2 activator

Summary

This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

Known Variants189 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs113607860	5:150,632,278	G/A	regulatory region variant	—
rs116594022	5:150,632,334	C/T	—	benign
rs1753617546	5:150,632,674	T/C	—	uncertain significance
rs2277028	5:150,632,676	G/A	—	benign
rs1753618021	5:150,632,695	C/G	—	uncertain significance
rs144932594	5:150,632,734	G/A	—	benign
rs371628812	5:150,632,771	C/G	—	uncertain significance
rs775585062	5:150,632,781	C/T	—	likely pathogenic
rs562249526	5:150,632,782	A/G	—	uncertain significance
rs762676667	5:150,632,788	T/A	—	uncertain significance
rs557461469	5:150,632,790	A/T	—	uncertain significance
rs759249002	5:150,632,791	T/C	—	uncertain significance
rs752323907	5:150,632,801	C/T	—	likely benign
rs143867953	5:150,632,810	C/T	—	likely benign
rs1401755476	5:150,632,813	C/T	—	likely benign
rs1753622145	5:150,632,814	C/T	—	uncertain significance
rs374161170	5:150,632,816	G/A	—	likely benign
rs1048719	5:150,632,832	G/A	—	benign
rs780278367	5:150,632,834	C/G	—	likely benign
rs1026835435	5:150,632,836	C/T	—	uncertain significance
rs28365994	5:150,632,855	A/T	—	likely benign
rs368443364	5:150,632,862	A/G	—	uncertain significance
rs41290575	5:150,633,108	A/C	—	benign
rs116789293	5:150,637,238	C/A	regulatory region variant	—
rs16838	5:150,639,162	G/C	—	benign
rs153476	5:150,639,224	A/T	—	benign
rs751772881	5:150,639,298	C/T	—	likely benign
rs2531745838	5:150,639,299	T/C	—	likely benign
rs369106753	5:150,639,301	C/T	—	likely benign
rs376211344	5:150,639,308	G/C	—	likely benign
rs2531745881	5:150,639,318	A/G	—	likely benign
rs1582070376	5:150,639,319	T/C	—	uncertain significance
rs371296403	5:150,639,324	G/T	—	uncertain significance
rs1427927893	5:150,639,332	G/A	—	uncertain significance
rs113271740	5:150,639,360	G/A	—	likely benign
rs1582070435	5:150,639,363	G/A	—	likely benign
rs761268810	5:150,639,371	C/A	—	uncertain significance
rs147511920	5:150,639,372	G/A	—	likely benign
rs1269101684	5:150,639,373	G/A	—	uncertain significance
rs104893897	5:150,639,394	G/T	stop gained	pathogenic
rs730882196	5:150,639,398	C/T	missense variant	pathogenic
rs755382727	5:150,639,406	A/T	—	uncertain significance
rs767781109	5:150,639,407	T/C	—	uncertain significance
rs153477	5:150,639,409	A/G	missense variant	benign
rs745799277	5:150,639,411	C/T	—	likely benign
rs201829650	5:150,639,412	G/A	—	uncertain significance
rs141199254	5:150,639,416	C/G	—	uncertain significance
rs2531746287	5:150,639,418	G/A	—	uncertain significance
rs768523926	5:150,639,429	C/T	—	likely benign
rs893036133	5:150,639,437	T/C	—	uncertain significance
rs153478	5:150,639,439	A/G	missense variant	benign
rs769261253	5:150,639,440	T/C	—	uncertain significance
rs2114032524	5:150,639,441	G/A	—	uncertain significance
rs766738446	5:150,639,486	G/A	—	likely benign
rs1270808888	5:150,639,487	G/A	—	likely benign
rs2277029	5:150,639,621	C/G	—	benign
rs153479	5:150,639,778	G/A	—	benign
rs6579845	5:150,642,265	A/G	intron variant	—
rs769492387	5:150,646,277	A/T	—	likely benign
rs772862761	5:150,646,279	T/G	—	likely benign
rs2127240577	5:150,646,286	T/C	—	likely benign
rs1057519022	5:150,646,290	A/T	—	pathogenic
rs139014924	5:150,646,292	G/C	—	uncertain significance
rs143999954	5:150,646,302	T/G	—	uncertain significance
rs201066568	5:150,646,309	G/A	—	likely benign
rs751417546	5:150,646,344	G/A	—	uncertain significance
rs1443880021	5:150,646,356	T/C	—	uncertain significance
rs907196314	5:150,646,363	C/T	—	likely benign
rs587779405	5:150,646,381	—	—	pathogenic
rs777250593	5:150,646,390	G/C	—	likely benign
rs145111469	5:150,646,394	G/C	—	uncertain significance
rs2531756555	5:150,646,412	G/A	—	likely pathogenic
rs1561620130	5:150,646,427	G/A	—	uncertain significance
rs2531756613	5:150,646,429	G/A	—	likely benign
rs761084552	5:150,646,436	C/T	—	uncertain significance
rs769169088	5:150,646,437	G/A	—	likely benign
rs762131629	5:150,646,443	A/T	—	uncertain significance
rs137852797	5:150,646,460	T/C	missense variant	pathogenic
rs1174735558	5:150,646,461	G/A	—	likely pathogenic
rs777663333	5:150,646,485	A/T	—	likely benign
rs2075782	5:150,646,647	T/C	—	benign
rs6861766	5:150,646,736	C/T	—	benign
rs2075783	5:150,646,780	A/C	—	benign
rs183697013	5:150,646,835	C/T	—	likely benign
rs2531757415	5:150,646,843	T/A	—	likely pathogenic
rs1753905990	5:150,646,844	G/A	—	uncertain significance
rs1344677939	5:150,646,845	G/A	—	likely benign
rs753609168	5:150,646,850	C/T	—	likely benign
rs2531757440	5:150,646,851	C/T	—	likely benign
rs761411485	5:150,646,853	G/A	—	likely benign
rs757954770	5:150,646,858	G/A	—	uncertain significance
rs2531757461	5:150,646,859	A/T	—	likely benign
rs1267776933	5:150,646,875	A/C	—	uncertain significance
rs1280352884	5:150,646,879	G/A	—	uncertain significance
rs755569739	5:150,646,880	C/T	—	likely benign
rs61740602	5:150,646,888	T/C	—	benign
rs1753908017	5:150,646,897	A/T	—	uncertain significance
rs1057519021	5:150,646,902	G/T	stop gained	pathogenic
rs774471512	5:150,646,922	C/G	—	likely benign
rs759623712	5:150,646,925	C/T	—	likely benign

Showing 100 of 189 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.