KMT2E

lysine methyltransferase 2E (inactive)

Summary

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

Known Variants738 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2536327644	7:104,681,305	A/G	—	uncertain significance
rs891241557	7:104,681,412	A/T	—	uncertain significance
rs748387280	7:104,681,413	T/A	—	uncertain significance
rs2536328036	7:104,681,417	A/G	—	likely benign
rs184187699	7:104,681,418	T/C	—	likely benign
rs773324013	7:104,681,420	G/A	—	likely benign
rs1435711015	7:104,681,431	C/T	—	uncertain significance
rs150090175	7:104,681,441	G/A	—	benign
rs2129565358	7:104,681,452	A/G	—	uncertain significance
rs1584714647	7:104,681,467	C/T	—	uncertain significance
rs60766560	7:104,702,594	C/G	—	benign
rs368980325	7:104,702,603	C/T	—	likely benign
rs138149088	7:104,702,614	A/G	—	likely benign
rs529117650	7:104,702,620	C/T	—	likely benign
rs367956492	7:104,702,621	G/A	—	uncertain significance
rs2536381601	7:104,702,638	G/C	—	likely benign
rs542916850	7:104,702,643	T/C	—	likely benign
rs2129567133	7:104,702,645	G/C	—	uncertain significance
rs1796843653	7:104,702,675	T/C	—	uncertain significance
rs780152679	7:104,702,681	A/G	—	uncertain significance
rs1264157083	7:104,702,686	C/T	—	likely benign
rs767958893	7:104,702,709	T/C	—	conflicting classifications of pathogenicity
rs1339983380	7:104,702,710	T/A	—	likely benign
rs2536381910	7:104,702,725	G/A	—	likely pathogenic
rs1796899754	7:104,703,789	A/G	—	likely pathogenic
rs1299577458	7:104,703,795	C/G	—	uncertain significance
rs761219973	7:104,703,809	T/C	—	likely benign
rs2536385139	7:104,703,819	C/G	—	uncertain significance
rs747436302	7:104,703,826	C/T	—	likely benign
rs1796900722	7:104,703,832	C/T	—	uncertain significance
rs1234381772	7:104,703,835	C/T	—	uncertain significance
rs756893449	7:104,703,836	G/A	—	likely benign
rs367576598	7:104,703,842	C/T	—	likely benign
rs1480427120	7:104,703,852	T/C	—	uncertain significance
rs2536385249	7:104,703,853	C/T	—	uncertain significance
rs149314039	7:104,703,857	C/G	—	likely benign
rs766611124	7:104,703,866	C/T	—	likely benign
rs2129567228	7:104,703,875	A/G	—	likely pathogenic
rs1013534993	7:104,703,882	A/T	—	uncertain significance
rs2536385358	7:104,703,891	A/T	—	uncertain significance
rs755868274	7:104,703,892	C/G	—	uncertain significance
rs371844872	7:104,703,902	T/C	—	benign
rs375785054	7:104,703,921	A/G	—	uncertain significance
rs770406555	7:104,703,926	A/G	—	likely benign
rs969860024	7:104,703,927	A/G	—	uncertain significance
rs1307148545	7:104,703,933	A/G	—	uncertain significance
rs1481079426	7:104,703,948	A/G	—	uncertain significance
rs2536385595	7:104,703,975	A/G	—	pathogenic
rs752612116	7:104,704,036	T/C	—	likely benign
rs778495428	7:104,707,169	T/C	—	likely benign
rs202085161	7:104,707,174	C/T	—	likely benign
rs74375534	7:104,707,175	G/A	—	conflicting classifications of pathogenicity
rs757902649	7:104,707,183	A/G	—	likely benign
rs779469744	7:104,707,207	T/G	—	uncertain significance
rs200520214	7:104,707,231	T/C	—	likely benign
rs2536395592	7:104,707,260	T/C	—	uncertain significance
rs373509806	7:104,707,262	G/A	—	likely benign
rs117695886	7:104,714,059	A/G	—	benign
rs145147042	7:104,714,062	G/A	—	benign
rs2129567910	7:104,714,097	C/T	—	pathogenic
rs754517302	7:104,714,099	A/G	—	likely benign
rs147429312	7:104,714,100	C/T	—	uncertain significance
rs199652176	7:104,714,103	C/T	—	uncertain significance
rs371088361	7:104,714,104	G/A	—	uncertain significance
rs779464498	7:104,714,110	G/T	—	likely benign
rs2536417194	7:104,714,112	G/A	—	uncertain significance
rs1584761229	7:104,714,125	G/A	—	conflicting classifications of pathogenicity
rs1236957628	7:104,714,127	A/G	—	uncertain significance
rs2536417258	7:104,714,129	G/C	—	uncertain significance
rs751253399	7:104,715,077	A/G	—	likely benign
rs371775776	7:104,715,109	T/C	—	likely benign
rs2129567970	7:104,715,131	G/A	—	uncertain significance
rs138243867	7:104,715,139	A/G	—	benign
rs374027563	7:104,715,154	G/T	—	likely benign
rs768691028	7:104,715,170	A/G	—	benign
rs147196269	7:104,715,187	A/G	—	likely benign
rs2536420204	7:104,715,189	G/A	—	uncertain significance
rs201601985	7:104,715,191	G/A	—	conflicting classifications of pathogenicity
rs1288210110	7:104,715,197	A/G	—	uncertain significance
rs2129567977	7:104,715,203	A/C	—	uncertain significance
rs2129567978	7:104,715,218	A/T	—	likely pathogenic
rs765774274	7:104,715,227	G/A	—	uncertain significance
rs148630031	7:104,715,229	G/T	—	benign
rs751724736	7:104,715,234	A/G	—	benign
rs141204161	7:104,715,245	A/T	—	uncertain significance
rs151308476	7:104,715,266	C/T	—	likely benign
rs749298914	7:104,715,280	T/A	—	likely benign
rs34045974	7:104,716,476	C/T	—	benign
rs1380685489	7:104,716,478	T/C	—	likely benign
rs564381291	7:104,716,483	A/G	—	likely benign
rs150708195	7:104,716,497	G/T	—	uncertain significance
rs1383973091	7:104,716,504	A/C	—	likely benign
rs1584764231	7:104,716,506	C/G	—	uncertain significance
rs2129568047	7:104,716,529	G/A	—	likely pathogenic
rs1014785502	7:104,716,533	A/G	—	uncertain significance
rs373514504	7:104,716,541	A/G	—	likely benign
rs201578626	7:104,716,548	G/A	—	likely benign
rs1797520393	7:104,716,647	A/G	—	uncertain significance
rs1797554628	7:104,717,404	T/A	—	likely benign
rs1031121243	7:104,717,410	G/T	—	uncertain significance

Showing 100 of 738 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.