KMT2B

lysine methyltransferase 2B

Summary

This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]

Known Variants1,605 total

rsidPosition (GRCh37)AllelesClassClinVar
rs196902007419:36,208,932G/A—likely benign
rs122263631519:36,208,933G/A—likely benign
rs196902105019:36,208,942G/A—uncertain significance
rs133079654619:36,208,950C/T—likely benign
rs96072151619:36,208,960G/A—uncertain significance
rs196902191019:36,208,962C/T—likely benign
rs130612385419:36,208,963T/C—uncertain significance
rs196902263019:36,208,975C/T—uncertain significance
rs139003131519:36,208,980C/T—likely benign
rs251330615219:36,208,984G/A—uncertain significance
rs251330619719:36,208,999G/T—uncertain significance
rs143870628419:36,209,000C/T—uncertain significance
rs131534888719:36,209,008G/A—uncertain significance
rs196902430619:36,209,012G/C—uncertain significance
rs128634010819:36,209,018G/A—uncertain significance
rs251330627319:36,209,020G/A—uncertain significance
rs196902471419:36,209,023G/C—uncertain significance
rs251330630019:36,209,028G/T—likely benign
rs251330632919:36,209,033A/G—uncertain significance
rs251330634119:36,209,035G/C—uncertain significance
rs251330635819:36,209,036G/T—uncertain significance
rs196902500419:36,209,037G/A—likely benign
rs99219192619:36,209,038G/A—uncertain significance
rs196902534019:36,209,041G/T—likely pathogenic
rs86630251519:36,209,047G/C—conflicting classifications of pathogenicity
rs102126242919:36,209,050C/T—uncertain significance
rs251330642519:36,209,052G/A—likely benign
rs140097132819:36,209,053G/A—uncertain significance
rs117671004719:36,209,055A/G—likely benign
rs96666027519:36,209,058T/G—likely benign
rs97963848019:36,209,064G/A—likely benign
rs196902688619:36,209,065C/A—uncertain significance
rs147078326119:36,209,066G/A—uncertain significance
rs123516970819:36,209,068G/T—uncertain significance
rs144221989919:36,209,070C/T—likely benign
rs196902842519:36,209,075G/A—likely benign
rs132740205619:36,209,080A/G—likely benign
rs93295752119:36,209,084G/C—uncertain significance
rs196902963619:36,209,088G/C—likely benign
rs251330666219:36,209,091C/T—likely benign
rs104739680619:36,209,095G/A—conflicting classifications of pathogenicity
rs88731756219:36,209,096C/T—uncertain significance
rs94032391919:36,209,100G/C—conflicting classifications of pathogenicity
rs127212544619:36,209,101C/T—uncertain significance
rs196903058819:36,209,102C/A—uncertain significance
rs103893457019:36,209,103C/T—likely benign
rs196903080519:36,209,106G/A—likely benign
rs251330671919:36,209,110G/A—uncertain significance
rs196903112019:36,209,117C/T—uncertain significance
rs120596133619:36,209,118C/T—benign
rs100227172319:36,209,125C/T—uncertain significance
rs251330677319:36,209,135G/A—uncertain significance
rs76934552319:36,209,141G/A—conflicting classifications of pathogenicity
rs101397085719:36,209,154C/G—likely benign
rs251330681919:36,209,155C/T—uncertain significance
rs125808820719:36,209,158C/T—conflicting classifications of pathogenicity
rs251330683719:36,209,161C/T—uncertain significance
rs251330684419:36,209,162G/A—uncertain significance
rs124770626419:36,209,166C/T—likely benign
rs77500696619:36,209,178C/A—likely benign
rs251330697919:36,209,184G/C—likely benign
rs76233473119:36,209,185G/A—uncertain significance
rs214642916219:36,209,187C/G—likely benign
rs251330701419:36,209,191C/T—uncertain significance
rs196903434619:36,209,197C/G—uncertain significance
rs196903457819:36,209,198G/C—uncertain significance
rs196903466019:36,209,200G/A—uncertain significance
rs103212426219:36,209,202A/C—likely benign
rs126924373519:36,209,205G/T—likely benign
rs134648831519:36,209,209C/T—uncertain significance
rs76172734219:36,209,226C/A—likely benign
rs76741727319:36,209,234G/C—uncertain significance
rs251330732019:36,209,236G/A—uncertain significance
rs251330732419:36,209,237G/T—uncertain significance
rs196903852619:36,209,243T/C—uncertain significance
rs55082379719:36,209,258G/A—uncertain significance
rs251330744219:36,209,260A/G—likely benign
rs36912994119:36,209,262T/C—likely benign
rs56738049419:36,209,266G/T—uncertain significance
rs126654070519:36,209,269G/A—uncertain significance
rs196904020819:36,209,273C/T—uncertain significance
rs78151698619:36,209,290C/T—likely benign
rs251330762719:36,209,296G/T—likely benign
rs13839960019:36,210,355C/T—likely benign
rs196909193319:36,210,356G/C—likely benign
rs36899135119:36,210,361C/T—benign
rs118417293619:36,210,378A/G—uncertain significance
rs141339771619:36,210,386C/T—benign
rs146618774619:36,210,394T/C—likely benign
rs20204802819:36,210,405C/T—conflicting classifications of pathogenicity
rs75215473719:36,210,408C/A—likely benign
rs251331012619:36,210,410A/T—uncertain significance
rs251331013419:36,210,411G/C—uncertain significance
rs56794424319:36,210,419C/T—uncertain significance
rs76797518719:36,210,421C/T—benign
rs74888865219:36,210,431C/T—pathogenic
rs75455814419:36,210,435C/T—conflicting classifications of pathogenicity
rs53649739319:36,210,453G/T—likely benign
rs55362051419:36,210,456G/A—benign
rs196909655019:36,210,461T/G—likely benign

Showing 100 of 1,605 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.