DNMT3B

DNA methyltransferase 3 beta

Summary

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]

Known Variants753 total

rsidPosition (GRCh37)AllelesClassClinVar
rs608799020:31,349,908T/Cregulatory region variantbenign
rs90928730120:31,350,209G/A—uncertain significance
rs13976251320:31,350,238C/T—benign
rs75139806320:31,350,245C/A—uncertain significance
rs136510311320:31,350,248C/T—uncertain significance
rs75691409820:31,350,278G/C—uncertain significance
rs88605661120:31,350,288C/A—uncertain significance
rs74990951820:31,350,300C/T—uncertain significance
rs54563847220:31,350,349A/C—uncertain significance
rs76713154120:31,350,407C/T—uncertain significance
rs88605661220:31,350,450C/G—uncertain significance
rs54283582120:31,350,491C/T—uncertain significance
rs74263020:31,350,664C/A——
rs242490520:31,352,927T/Cintron variant—
rs78055258020:31,354,967G/C——
rs242490920:31,361,861T/Cregulatory region variant—
rs611995420:31,364,166G/Aintron variant—
rs156968620:31,367,079G/Tintron variant—
rs605888520:31,367,948C/T—benign
rs77882703020:31,368,139G/C—uncertain significance
rs20145543020:31,368,143C/G—uncertain significance
rs130791650920:31,368,159A/G—likely benign
rs14758072020:31,368,168C/T—likely benign
rs77085965220:31,368,169G/C—uncertain significance
rs73082320:31,368,171C/T—likely benign
rs37517136220:31,368,172G/A—conflicting classifications of pathogenicity
rs37359456820:31,368,174C/T—likely benign
rs77481610520:31,368,186C/G—uncertain significance
rs53055203320:31,368,189G/A—likely benign
rs14374319420:31,368,195C/T—likely benign
rs36776600720:31,368,196G/A—uncertain significance
rs77751159420:31,368,201C/T—likely benign
rs15112814520:31,368,202G/A—conflicting classifications of pathogenicity
rs75732678120:31,368,204G/A—likely benign
rs214590650820:31,368,207C/T—likely benign
rs137194023520:31,368,213C/T—likely benign
rs77521615120:31,368,214G/A—uncertain significance
rs12190894520:31,368,217C/Tstop gainedpathogenic
rs76819918920:31,368,225C/T—likely benign
rs251545156720:31,368,228C/T—likely benign
rs76692011920:31,368,230C/T—uncertain significance
rs56415490420:31,368,231G/A—conflicting classifications of pathogenicity
rs37491390220:31,368,244G/C—conflicting classifications of pathogenicity
rs15020055320:31,368,253C/T—likely benign
rs251545192320:31,368,255C/T—likely benign
rs75721467720:31,368,257C/T—uncertain significance
rs37730109220:31,368,258C/T—likely benign
rs251545201420:31,368,259C/T—uncertain significance
rs78131357020:31,368,260C/T—uncertain significance
rs13880525120:31,368,261G/A—conflicting classifications of pathogenicity
rs75595189420:31,368,263A/C—uncertain significance
rs130334683220:31,368,268A/C—likely benign
rs77977084420:31,368,274G/A—uncertain significance
rs74896723220:31,368,275G/T—uncertain significance
rs76823440720:31,368,278G/A—likely benign
rs77837071720:31,368,281C/A—likely benign
rs118411067120:31,368,288G/C—likely benign
rs160107515020:31,368,291T/C—likely benign
rs251546155220:31,369,139C/G—likely benign
rs251546175020:31,369,149T/C—likely benign
rs37713807920:31,369,150C/G—conflicting classifications of pathogenicity
rs20034952820:31,369,151C/T—conflicting classifications of pathogenicity
rs140451490920:31,369,154T/A—likely benign
rs76893789220:31,369,156C/T—uncertain significance
rs76218593020:31,369,159G/A—uncertain significance
rs197860254520:31,369,161C/T—pathogenic
rs251546209120:31,369,166A/G—likely benign
rs197860330820:31,369,170A/C—uncertain significance
rs54456107920:31,369,174C/T—conflicting classifications of pathogenicity
rs14569480420:31,369,175G/A—likely benign
rs76064001320:31,369,176C/T—pathogenic
rs160107790520:31,369,178A/G—likely benign
rs75473464020:31,369,181C/G—likely benign
rs76481168720:31,369,183C/T—uncertain significance
rs251546246720:31,369,194G/A—uncertain significance
rs251546248820:31,369,196G/A—likely benign
rs75232919020:31,369,198C/T—uncertain significance
rs53318317520:31,369,199C/T—likely benign
rs127335575620:31,369,205G/T—likely benign
rs96483994720:31,369,213A/G—uncertain significance
rs251546284120:31,369,214C/T—likely benign
rs214591310320:31,369,217A/G—likely benign
rs197861239320:31,369,228C/G—likely benign
rs56060218220:31,369,233C/T—benign
rs251546312320:31,369,234T/C—likely benign
rs141623634420:31,369,238C/G—likely benign
rs76500876420:31,372,546T/C—likely benign
rs251549330920:31,372,548A/G—likely benign
rs146473953320:31,372,550G/A—likely benign
rs105396596720:31,372,555C/T—likely benign
rs197905030620:31,372,558A/G—likely benign
rs251549351620:31,372,559T/C—likely benign
rs251549353920:31,372,560A/T—likely benign
rs36909043420:31,372,575C/T—likely benign
rs37341064520:31,372,581C/T—likely benign
rs37535147920:31,372,584C/T—likely benign
rs54568568920:31,372,585G/A—uncertain significance
rs74854751420:31,372,601G/C—uncertain significance
rs13827657920:31,372,610C/A—uncertain significance
rs77330879120:31,372,611C/T—likely benign

Showing 100 of 753 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.