NEUROG3

neurogenin 3

Summary

The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]

Known Variants114 total

rsidPosition (GRCh37)AllelesClassClinVar
rs128980829610:71,332,170G/A—likely benign
rs90108007410:71,332,171A/G—uncertain significance
rs74992264210:71,332,176C/G—likely benign
rs128531333610:71,332,178G/A—likely benign
rs213322653910:71,332,191C/G—uncertain significance
rs131865378010:71,332,195C/A—uncertain significance
rs453610310:71,332,204A/Gmissense variantbenign
rs126911447010:71,332,206G/T—likely benign
rs78138426210:71,332,215C/T—likely benign
rs74845401610:71,332,218C/A—likely benign
rs77344791010:71,332,219A/C—uncertain significance
rs76294218810:71,332,223C/T—uncertain significance
rs134637599710:71,332,228C/T—uncertain significance
rs77093594610:71,332,229G/A—uncertain significance
rs122422291810:71,332,241A/T—uncertain significance
rs76059844410:71,332,243G/A—uncertain significance
rs183922642710:71,332,244C/T—uncertain significance
rs86620599610:71,332,247C/A—uncertain significance
rs57779706910:71,332,248G/A—benign
rs100560394210:71,332,260G/A—likely benign
rs76480259910:71,332,261C/T—uncertain significance
rs75003427510:71,332,262C/T—uncertain significance
rs75215568410:71,332,265C/A—uncertain significance
rs20145317510:71,332,274C/G—uncertain significance
rs78169206510:71,332,280A/G—uncertain significance
rs254070947410:71,332,283A/G—uncertain significance
rs77786726010:71,332,286G/T—uncertain significance
rs20041729310:71,332,289A/T—benign
rs4127723610:71,332,301T/C—benign
rs77659030510:71,332,304G/A—uncertain significance
rs76152756010:71,332,306G/A—uncertain significance
rs254070961310:71,332,324A/T—uncertain significance
rs76791765010:71,332,331C/T—uncertain significance
rs19975689310:71,332,332G/A—likely benign
rs254070964110:71,332,334A/C—uncertain significance
rs138182645510:71,332,335G/C—uncertain significance
rs77905554110:71,332,349G/C—uncertain significance
rs37114046410:71,332,354A/G—uncertain significance
rs77312178610:71,332,368G/C—uncertain significance
rs75982967210:71,332,370G/A—uncertain significance
rs138296514210:71,332,375G/T—uncertain significance
rs76616523010:71,332,382G/A—uncertain significance
rs138394096010:71,332,387G/C—uncertain significance
rs101100829510:71,332,394T/C—uncertain significance
rs36801365610:71,332,398C/A—likely benign
rs213322698610:71,332,406T/A—likely pathogenic
rs75897850810:71,332,408T/C—uncertain significance
rs254070986310:71,332,411T/C—uncertain significance
rs254070987010:71,332,413G/A—likely benign
rs213322699510:71,332,419G/A—likely benign
rs213322701010:71,332,429G/C—pathogenic
rs124401966310:71,332,431C/G—uncertain significance
rs14012833310:71,332,433C/G—uncertain significance
rs52894519310:71,332,434G/C—uncertain significance
rs96927845310:71,332,441G/C—uncertain significance
rs213322704010:71,332,444A/C—uncertain significance
rs127994285310:71,332,447T/C—uncertain significance
rs75847478810:71,332,457C/G—uncertain significance
rs12191783710:71,332,481G/Tmissense variantpathogenic
rs254071000510:71,332,482C/G—likely benign
rs183923202810:71,332,485G/A—likely benign
rs37307158110:71,332,488G/A—likely benign
rs138535318510:71,332,497C/A—likely benign
rs213322714810:71,332,516C/G—pathogenic
rs12191783810:71,332,522C/Amissense variantpathogenic
rs77152088410:71,332,529G/C—uncertain significance
rs14685079110:71,332,540T/G—uncertain significance
rs213322720110:71,332,543T/C—uncertain significance
rs254071014510:71,332,546C/A—uncertain significance
rs143891584810:71,332,549C/A—uncertain significance
rs138789739410:71,332,572T/G—likely benign
rs20146788610:71,332,577A/G—benign
rs75068601410:71,332,579T/C—uncertain significance
rs36987932110:71,332,580C/A—pathogenic
rs78009282710:71,332,587A/C—likely benign
rs14991122710:71,332,590C/T—likely benign
rs129818832510:71,332,608C/T—likely benign
rs37721612910:71,332,609C/A—uncertain significance
rs76564106510:71,332,614C/T—likely benign
rs132976773510:71,332,615C/T—uncertain significance
rs14904284710:71,332,619G/A—uncertain significance
rs75517148510:71,332,630G/A—uncertain significance
rs76769716110:71,332,632C/A—likely benign
rs75386343610:71,332,636C/G—uncertain significance
rs75723517710:71,332,637G/C—uncertain significance
rs146165043910:71,332,638G/T—pathogenic
rs213322740110:71,332,644T/A—likely benign
rs14318256910:71,332,670C/T—conflicting classifications of pathogenicity
rs254071044810:71,332,672C/T—uncertain significance
rs126500765010:71,332,678C/T—uncertain significance
rs126199578310:71,332,693G/A—uncertain significance
rs76664452910:71,332,698G/A—likely benign
rs77469716610:71,332,699G/T—uncertain significance
rs55303102210:71,332,701C/T—likely benign
rs75284455810:71,332,702G/A—uncertain significance
rs254071055810:71,332,718C/A—pathogenic
rs76522445410:71,332,719G/A—likely benign
rs129906608910:71,332,725C/T—likely benign
rs254071058410:71,332,734G/A—likely benign
rs77968290410:71,332,737G/A—likely benign

Showing 100 of 114 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.