KMT2C

lysine methyltransferase 2C

Summary

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]

Known Variants1,456 total

rsidPosition (GRCh37)AllelesClassClinVar
rs24875277287:151,833,946C/A—likely benign
rs20899183017:151,833,984A/T—uncertain significance
rs7798182887:151,833,994T/G—benign
rs7484260147:151,834,002T/C—uncertain significance
rs3736079487:151,834,017C/T—likely benign
rs14061016437:151,834,019G/A—likely benign
rs7684459447:151,835,945A/G—likely benign
rs24875374167:151,835,954G/A—likely benign
rs20901860487:151,835,959A/G—likely benign
rs21290892627:151,835,964T/C—uncertain significance
rs21290892717:151,835,972C/T—uncertain significance
rs5756257447:151,835,974C/T—likely benign
rs21290892847:151,835,981T/C—uncertain significance
rs21290892907:151,835,987T/C—uncertain significance
rs20901882037:151,835,993C/T—likely benign
rs1394288427:151,836,000C/T—benign
rs1999394837:151,836,254G/A—likely benign
rs3739839787:151,836,256T/A—likely benign
rs24875402667:151,836,257C/G—likely benign
rs12500712167:151,836,260C/A—likely benign
rs7504939027:151,836,264G/A—likely benign
rs1398646117:151,836,297G/A—benign
rs7704985567:151,836,311C/T—uncertain significance
rs10647963427:151,836,322C/T—uncertain significance
rs12603588747:151,836,340C/T—likely benign
rs3750231677:151,836,342G/A—likely benign
rs11797015847:151,836,798C/T—uncertain significance
rs624814827:151,836,799G/A—benign
rs21290898617:151,836,807T/C—uncertain significance
rs7609822677:151,836,810T/C—conflicting classifications of pathogenicity
rs21290898767:151,836,816C/T—uncertain significance
rs7666681317:151,836,817G/T—likely benign
rs11695995657:151,836,844C/G—uncertain significance
rs10575180937:151,836,877C/T—pathogenic
rs2021614927:151,836,879A/T—likely benign
rs7807753587:151,836,885A/C—likely benign
rs1998936787:151,836,895A/G—likely benign
rs7645498687:151,841,783A/G—likely benign
rs14221095507:151,841,789T/C—likely benign
rs20909343497:151,841,795C/T—uncertain significance
rs7501436217:151,841,811C/T—likely benign
rs20909351347:151,841,812G/A—uncertain significance
rs7796184287:151,841,819A/G—likely benign
rs5748860187:151,841,821A/G—uncertain significance
rs21290926917:151,841,831T/C—likely benign
rs13736216807:151,841,853C/T—uncertain significance
rs7790385797:151,841,855G/A—likely benign
rs9247421927:151,841,861C/T—likely benign
rs21290927357:151,841,862G/A—uncertain significance
rs13282826707:151,841,864T/C—benign
rs7720574917:151,841,891A/G—benign
rs21290927807:151,841,896G/A—likely pathogenic
rs21290928547:151,841,946G/A—uncertain significance
rs7641372487:151,841,963A/T—likely benign
rs5407033917:151,841,981A/G—benign
rs9286213587:151,842,223G/A—likely benign
rs15544509557:151,842,235T/C—uncertain significance
rs21290932447:151,842,258A/G—likely benign
rs21290932737:151,842,275G/A—uncertain significance
rs21290933067:151,842,304A/C—likely benign
rs3696844967:151,842,305C/T—not provided
rs7648509157:151,842,306G/A—benign
rs7725870037:151,842,311G/A—uncertain significance
rs7775261167:151,842,334C/T—likely benign
rs20909852957:151,842,335G/C—uncertain significance
rs1510231837:151,842,339G/A—likely benign
rs7495711607:151,842,344G/A—pathogenic
rs1411067047:151,842,355T/C—likely benign
rs13722518217:151,842,368C/G—uncertain significance
rs1488115507:151,842,372C/A—likely benign
rs22408197:151,842,397C/T—benign
rs7474819637:151,843,670A/G—likely benign
rs7713992297:151,843,674A/C—likely benign
rs3761986557:151,843,690C/T—likely benign
rs1432920087:151,843,693T/A—likely benign
rs7635706427:151,843,695T/C—likely benign
rs1511121717:151,843,697C/T—uncertain significance
rs3706203147:151,843,698G/A—conflicting classifications of pathogenicity
rs7503375657:151,843,706G/A—benign
rs5544547237:151,843,713C/T—likely benign
rs7798202827:151,843,714G/A—benign
rs5877785127:151,843,748G/T—not provided
rs21290940527:151,843,749C/T—uncertain significance
rs13677751377:151,843,760T/C—likely benign
rs7454069297:151,843,774C/A—conflicting classifications of pathogenicity
rs1426579947:151,843,784A/C—likely benign
rs21290940747:151,843,810A/T—uncertain significance
rs7496271967:151,845,106G/A—likely benign
rs7688783307:151,845,112C/T—uncertain significance
rs24875964217:151,845,116A/C—likely pathogenic
rs20913149367:151,845,128G/C—uncertain significance
rs1467575857:151,845,129A/G—likely benign
rs21290948577:151,845,142C/T—benign
rs7662632887:151,845,156C/T—uncertain significance
rs2017428137:151,845,189C/T—likely benign
rs1417582807:151,845,208T/C—benign
rs5437341037:151,845,223G/A—conflicting classifications of pathogenicity
rs20913238837:151,845,233A/G—likely benign
rs13230514947:151,845,243C/T—uncertain significance
rs12383769947:151,845,254G/A—likely benign

Showing 100 of 1,456 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.