KMT5B

lysine methyltransferase 5B

Summary

This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Known Variants136 total

rsidPosition (GRCh37)AllelesClassClinVar
rs74757312611:67,925,162T/C—likely benign
rs249617821711:67,925,192C/T—uncertain significance
rs249617850211:67,925,216G/C—uncertain significance
rs249618021611:67,925,298C/T—uncertain significance
rs87885316411:67,925,316C/Astop gainedpathogenic
rs249618079711:67,925,321G/T—uncertain significance
rs185941177511:67,925,324G/A—uncertain significance
rs215303989811:67,925,339C/T—uncertain significance
rs136855899811:67,925,351T/C—likely benign
rs37708609111:67,925,378C/G—uncertain significance
rs156521229811:67,925,379G/A—likely pathogenic
rs249618242711:67,925,390A/C—uncertain significance
rs215303997111:67,925,400G/A—uncertain significance
rs76930040811:67,925,430G/T—uncertain significance
rs185942325911:67,925,448C/A—uncertain significance
rs76163562611:67,925,465C/T—likely benign
rs185942464111:67,925,466G/A—pathogenic
rs14445899111:67,925,546T/Cmissense variantlikely benign
rs14654909011:67,925,554G/A—likely benign
rs77957228111:67,925,582C/T—uncertain significance
rs76840767311:67,925,595A/G—uncertain significance
rs215304018111:67,925,648C/G—uncertain significance
rs155502262311:67,925,651C/T—uncertain significance
rs249618816911:67,925,663T/C—uncertain significance
rs249618902311:67,925,718G/A—likely pathogenic
rs215304024411:67,925,739C/T—uncertain significance
rs3608920911:67,925,776T/C—benign
rs249619074511:67,925,792C/T—uncertain significance
rs75846024611:67,925,793C/T—uncertain significance
rs37377499411:67,925,794G/A—likely benign
rs249619101011:67,925,799G/A—uncertain significance
rs75430775711:67,925,810C/G—uncertain significance
rs37753790811:67,925,832C/T—likely benign
rs185945512811:67,925,859G/C—uncertain significance
rs57524850511:67,925,891G/A—conflicting classifications of pathogenicity
rs14608632511:67,925,892C/T—likely benign
rs249619402211:67,925,919C/G—uncertain significance
rs118405010111:67,925,924G/T—uncertain significance
rs77895110911:67,925,962T/G—likely benign
rs14800573811:67,925,970G/A—likely pathogenic
rs215304045711:67,925,982T/C—uncertain significance
rs185946913711:67,925,993G/A—uncertain significance
rs18769523611:67,926,027G/C—likely benign
rs75607817011:67,926,039G/A—uncertain significance
rs14154820511:67,926,048C/G—likely benign
rs11393270411:67,926,093C/T—likely benign
rs76151447911:67,926,101G/C—uncertain significance
rs56265335711:67,926,106C/T—likely benign
rs14452198511:67,926,107G/A—conflicting classifications of pathogenicity
rs123852438211:67,926,123A/G—uncertain significance
rs37188048411:67,926,130C/A—conflicting classifications of pathogenicity
rs56560316911:67,926,194C/T—conflicting classifications of pathogenicity
rs76934486811:67,926,195G/A—uncertain significance
rs36759600311:67,926,197C/T—uncertain significance
rs249620090811:67,926,198G/A—uncertain significance
rs15090541711:67,926,218G/A—likely benign
rs56019698311:67,926,226C/G—likely benign
rs14614370611:67,926,233G/A—benign
rs14003737211:67,926,251G/A—likely benign
rs37716316711:67,926,275G/A—uncertain significance
rs76747367911:67,926,304T/C—likely benign
rs55020621711:67,926,306C/T—likely benign
rs14578221311:67,926,307G/A—likely benign
rs185461509311:67,926,335T/A—uncertain significance
rs128939950011:67,926,359T/A—uncertain significance
rs249620525911:67,926,368A/C—uncertain significance
rs249620595011:67,926,402C/A—pathogenic
rs249620671711:67,926,433C/G—likely benign
rs103035871311:67,926,482G/C—uncertain significance
rs13938871111:67,926,515T/C—likely benign
rs76187751011:67,926,570T/A—uncertain significance
rs11515959811:67,926,574T/C—likely benign
rs20129800211:67,926,587G/T—uncertain significance
rs215304105211:67,926,602T/C—uncertain significance
rs185464168711:67,926,605T/C—uncertain significance
rs215304108211:67,926,623G/T—uncertain significance
rs14214134411:67,926,629C/T—uncertain significance
rs249621022111:67,926,630G/A—pathogenic
rs249621025611:67,926,631G/C—uncertain significance
rs493056111:67,931,761G/Aintron variant—
rs55855376511:67,932,874G/C—uncertain significance
rs215304723711:67,934,444C/G—not provided
rs215304733211:67,934,554G/A—uncertain significance
rs129155427611:67,934,644G/A—uncertain significance
rs76737883511:67,938,487G/C—likely pathogenic
rs155502782811:67,938,489A/C—likely pathogenic
rs13891319711:67,938,502G/A—likely benign
rs249638007011:67,938,503C/T—uncertain significance
rs249638029311:67,938,536C/T—uncertain significance
rs249638038211:67,938,540A/G—uncertain significance
rs249638046211:67,938,545C/T—likely pathogenic
rs249638050511:67,938,546A/G—uncertain significance
rs249638055311:67,938,555C/T—likely pathogenic
rs215305192511:67,938,570T/C—uncertain significance
rs249638113111:67,938,582C/G—uncertain significance
rs185579996111:67,938,602C/T—uncertain significance
rs159095468611:67,938,603G/A—pathogenic
rs215305207311:67,938,706T/A—pathogenic
rs159095504211:67,938,720T/C—likely pathogenic
rs156522603411:67,939,017T/C—likely pathogenic

Showing 100 of 136 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.