EBF3

EBF transcription factor 3

Summary

This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]

Known Variants175 total

rsidPosition (GRCh37)AllelesClassClinVar
rs213392802610:131,636,197A/G—uncertain significance
rs159001977110:131,636,199T/A—likely benign
rs147288547910:131,636,222T/C—uncertain significance
rs14891575010:131,636,224G/A—uncertain significance
rs375082710:131,637,794G/Adownstream gene variant—
rs184992599610:131,638,501A/C—likely benign
rs77103863410:131,638,519A/C—uncertain significance
rs36918370010:131,638,524C/T—uncertain significance
rs709282810:131,638,525G/A—likely benign
rs20040458810:131,638,531G/A—benign
rs14851236910:131,638,573G/A—likely benign
rs77993310110:131,638,576C/T—likely benign
rs141975317010:131,639,161A/C—uncertain significance
rs249374715910:131,639,233T/C—uncertain significance
rs249374718110:131,639,234G/A—conflicting classifications of pathogenicity
rs125904159010:131,639,261G/A—conflicting classifications of pathogenicity
rs140649008610:131,639,288T/C—uncertain significance
rs86625837910:131,639,306T/C—likely benign
rs77962841910:131,640,377T/C—uncertain significance
rs20095476210:131,640,387G/A—likely benign
rs117230328610:131,640,395G/A—likely pathogenic
rs76164519110:131,640,399C/T—likely benign
rs185010934310:131,640,401T/C—uncertain significance
rs249376182910:131,640,406G/C—pathogenic
rs77309364310:131,640,410C/T—uncertain significance
rs57574383510:131,640,417G/A—likely benign
rs11235671910:131,640,435G/A—likely benign
rs249376256010:131,640,446C/T—uncertain significance
rs74882025810:131,640,457G/A—likely benign
rs37065934610:131,640,461G/A—uncertain significance
rs249376292810:131,640,470T/C—uncertain significance
rs213395226410:131,640,478A/G—uncertain significance
rs159003855310:131,640,480G/A—likely benign
rs117344266310:131,640,531G/C—uncertain significance
rs14425777910:131,640,534C/T—likely benign
rs156481631910:131,640,542G/A—pathogenic
rs96902716710:131,640,552G/T—likely benign
rs249377477410:131,641,440G/C—uncertain significance
rs249377485410:131,641,442C/G—uncertain significance
rs126820783610:131,641,444G/A—likely pathogenic
rs145811253410:131,641,473G/C—likely benign
rs79704613610:131,646,655C/A—pathogenic
rs213398148810:131,646,682G/C—uncertain significance
rs185062894210:131,646,703G/A—pathogenic
rs185062943410:131,646,717C/T—conflicting classifications of pathogenicity
rs14216567110:131,665,406G/C—likely benign
rs213407644110:131,665,412G/A—uncertain significance
rs249398050410:131,665,431C/A—uncertain significance
rs249398081810:131,665,461A/T—likely pathogenic
rs185208323610:131,665,462G/A—uncertain significance
rs37531635410:131,665,477C/T—uncertain significance
rs15120688010:131,665,478G/A—likely benign
rs249398126710:131,665,483G/A—uncertain significance
rs249398135110:131,665,489G/A—uncertain significance
rs75923812610:131,665,494G/A—likely benign
rs76940560610:131,665,496C/T—likely benign
rs156483943410:131,665,497G/A—uncertain significance
rs106479666910:131,665,510G/Astop gainedpathogenic
rs249398204910:131,665,519G/A—uncertain significance
rs249399008810:131,666,040G/A—uncertain significance
rs249399085310:131,666,080T/A—uncertain significance
rs185213248510:131,666,087C/T—uncertain significance
rs77420323810:131,666,102C/T—uncertain significance
rs6172924810:131,666,118G/A—likely benign
rs249399171010:131,666,130C/T—uncertain significance
rs249399221710:131,666,173G/C—uncertain significance
rs75827631510:131,671,750C/T—likely benign
rs57087380010:131,671,760C/T—uncertain significance
rs53044418210:131,671,767C/T—uncertain significance
rs155490288510:131,671,781T/C—likely pathogenic
rs249404241610:131,671,796A/G—likely pathogenic
rs249404248710:131,671,802A/T—likely pathogenic
rs132984779910:131,671,810T/G—likely benign
rs185255218010:131,671,811G/A—likely pathogenic
rs15038325710:131,671,816G/A—likely benign
rs91360313910:131,671,824C/T—uncertain significance
rs213410833210:131,671,836C/T—conflicting classifications of pathogenicity
rs185255496910:131,671,841A/G—likely pathogenic
rs118126545310:131,671,850G/A—uncertain significance
rs14197368510:131,671,858A/C—likely benign
rs980420010:131,673,986C/Tintron variant—
rs158976727410:131,676,031C/T—pathogenic
rs213412958710:131,676,033T/A—uncertain significance
rs185289644010:131,676,034G/A—pathogenic
rs155490431110:131,676,035G/T—uncertain significance
rs213412963610:131,676,037A/G—likely pathogenic
rs113169226110:131,676,042C/T—pathogenic
rs77900315510:131,676,043G/Amissense variantpathogenic
rs105751952210:131,676,052G/Astop gainedpathogenic
rs249408535010:131,676,056G/T—uncertain significance
rs155490432310:131,676,058T/C—uncertain significance
rs155490433010:131,676,075C/T—pathogenic
rs213412984510:131,676,079T/C—likely pathogenic
rs213412985810:131,676,081T/C—pathogenic
rs249408566710:131,676,088A/G—uncertain significance
rs105751952010:131,676,089C/Amissense variantpathogenic
rs88604097610:131,676,091T/Cmissense variantpathogenic
rs213461043310:131,755,517C/T—uncertain significance
rs213461044410:131,755,518T/G—pathogenic
rs155493485510:131,755,522C/T—uncertain significance

Showing 100 of 175 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.