DNMT1

DNA methyltransferase 1

Summary

This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Known Variants1,249 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14669457519:10,244,020G/C—benign
rs18942225919:10,244,056A/G—benign
rs88605412519:10,244,069A/G—uncertain significance
rs76876181919:10,244,090C/T—uncertain significance
rs77299985119:10,244,132C/G—uncertain significance
rs19295280019:10,244,178A/C—conflicting classifications of pathogenicity
rs88605412619:10,244,217T/C—uncertain significance
rs141608004519:10,244,309T/G—uncertain significance
rs74924779919:10,244,314C/T—uncertain significance
rs77846746119:10,244,325G/A—uncertain significance
rs251375858219:10,244,346G/C—uncertain significance
rs251375859319:10,244,347T/C—uncertain significance
rs14711826819:10,244,348C/G—conflicting classifications of pathogenicity
rs100465863719:10,244,351T/C—uncertain significance
rs37007017419:10,244,358T/A—conflicting classifications of pathogenicity
rs76350246619:10,244,361C/T—likely benign
rs77674945419:10,244,364C/T—benign
rs20177409819:10,244,366C/T—conflicting classifications of pathogenicity
rs75162567419:10,244,375T/C—uncertain significance
rs1042367319:10,244,531C/T—benign
rs7301301219:10,244,554G/A—benign
rs7615973219:10,244,781G/A—benign
rs141272132319:10,244,875T/C—likely benign
rs208943210619:10,244,877G/A—likely benign
rs123583066119:10,244,880C/G—likely benign
rs251376042319:10,244,885C/T—likely benign
rs57687721919:10,244,897G/A—benign
rs214524728319:10,244,900A/C—uncertain significance
rs144246931719:10,244,901C/T—uncertain significance
rs76770526619:10,244,907C/T—likely benign
rs94866372419:10,244,908G/A—uncertain significance
rs208943335819:10,244,912T/A—uncertain significance
rs77577389919:10,244,915G/A—likely benign
rs159933652619:10,244,918C/T—likely benign
rs251376058519:10,244,929G/A—uncertain significance
rs156821708719:10,244,938C/T—uncertain significance
rs14771385019:10,244,941A/G—likely benign
rs251376071619:10,244,958A/C—uncertain significance
rs76516525619:10,244,963C/T—likely benign
rs75036421419:10,244,972G/A—likely benign
rs75839632319:10,244,978G/T—likely benign
rs77952520119:10,244,995G/A—likely benign
rs7999902719:10,245,077A/T—benign
rs810162619:10,246,029G/Aintron variant—
rs11404319819:10,246,207G/A—likely benign
rs19081674619:10,246,315G/T—likely benign
rs74703074819:10,246,340C/T—likely benign
rs13998816219:10,246,355G/A—likely benign
rs75505039019:10,246,392G/A—likely benign
rs76625318219:10,246,393C/T—likely benign
rs18330049619:10,246,394G/A—likely benign
rs75901671119:10,246,397C/T—likely benign
rs37167989419:10,246,398G/A—likely benign
rs37658050819:10,246,400C/T—likely benign
rs77760263319:10,246,401G/A—likely benign
rs251376513219:10,246,409G/C—uncertain significance
rs214525222219:10,246,424G/A—likely benign
rs75076945319:10,246,431A/G—uncertain significance
rs159933914319:10,246,433G/A—likely benign
rs78064104019:10,246,439G/C—uncertain significance
rs156821849119:10,246,444G/A—uncertain significance
rs156821849819:10,246,446C/T—uncertain significance
rs105752339619:10,246,451G/A—likely benign
rs139507873619:10,246,452G/C—uncertain significance
rs36947223519:10,246,463G/T—likely benign
rs146169537319:10,246,474G/A—uncertain significance
rs139311105119:10,246,485C/T—uncertain significance
rs37169978819:10,246,490G/A—likely benign
rs122896758719:10,246,493C/A—likely benign
rs251376552219:10,246,500C/T—uncertain significance
rs74829856419:10,246,502G/C—uncertain significance
rs77917373119:10,246,514G/A—likely benign
rs91948625519:10,246,522C/T—uncertain significance
rs76996256619:10,246,523G/A—likely benign
rs159933934419:10,246,526G/A—likely benign
rs119100999519:10,246,533G/T—likely benign
rs133673466619:10,246,535G/A—likely benign
rs20180558219:10,246,543C/T—likely benign
rs77071517019:10,246,544G/A—likely benign
rs11459427919:10,246,545C/T—likely benign
rs75937184619:10,246,546G/A—likely benign
rs76753246219:10,246,548T/C—likely benign
rs55403498219:10,246,555G/C—likely benign
rs7392232819:10,246,585G/A—likely benign
rs14850855819:10,246,597G/C—likely benign
rs18802680619:10,246,784C/A—benign
rs36772467219:10,246,788C/T—likely benign
rs251376669119:10,246,790C/T—likely benign
rs214525335419:10,246,812C/A—likely pathogenic
rs57263859719:10,246,815G/A—likely benign
rs155568765519:10,246,817G/A—likely pathogenic
rs159933982919:10,246,818G/A—likely benign
rs208947726819:10,246,823T/C—uncertain significance
rs76003781419:10,246,827G/A—likely benign
rs76153407119:10,246,845G/A—likely benign
rs131684881119:10,246,853C/G—likely benign
rs14586023319:10,246,854G/T—likely benign
rs159933992519:10,246,863A/G—likely benign
rs76975963819:10,246,896G/A—likely benign
rs75324821219:10,246,899G/A—conflicting classifications of pathogenicity

Showing 100 of 1,249 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.