DNAH3

dynein axonemal heavy chain 3

Summary

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]

Known Variants327 total

rsidPosition (GRCh37)AllelesClassClinVar
rs52753599916:20,944,484C/T—uncertain significance
rs215256287016:20,944,520A/G—uncertain significance
rs76711816016:20,944,541T/C—uncertain significance
rs14187432816:20,944,548C/G—uncertain significance
rs14698605216:20,944,559G/A—uncertain significance
rs1333653416:20,944,713G/A—benign
rs76805244716:20,944,784C/G—uncertain significance
rs208348158316:20,944,797G/C—uncertain significance
rs230161816:20,946,664C/T—benign
rs208354974516:20,946,702T/C—uncertain significance
rs123274423216:20,946,713C/T—uncertain significance
rs37722211616:20,946,732C/T—uncertain significance
rs2865435016:20,947,488C/T——
rs77988972616:20,948,104G/A—uncertain significance
rs14687227416:20,948,159G/A—uncertain significance
rs14532738216:20,948,167T/C—uncertain significance
rs74590752016:20,952,774T/C—uncertain significance
rs14654667116:20,952,796T/A—uncertain significance
rs208380846016:20,952,841C/A—uncertain significance
rs134358341616:20,955,853G/C—uncertain significance
rs74786832516:20,959,849C/T—uncertain significance
rs77674468716:20,959,930C/T—uncertain significance
rs719967616:20,963,765G/C—benign
rs14773299216:20,963,832T/C—likely benign
rs208436227716:20,963,835A/C—uncertain significance
rs18522242716:20,963,839C/T—uncertain significance
rs77616281716:20,963,856T/C—uncertain significance
rs14635238416:20,963,860G/T—uncertain significance
rs14255761616:20,966,168C/A—likely benign
rs75048715616:20,966,272C/T—uncertain significance
rs54761123516:20,966,287C/T—uncertain significance
rs75675891616:20,966,369T/G—uncertain significance
rs37071916:20,969,378C/A——
rs18777487916:20,970,496C/T—likely benign
rs19157021816:20,970,520T/C—uncertain significance
rs36823353116:20,970,535C/G—uncertain significance
rs254444267016:20,970,536C/A—uncertain significance
rs3412150316:20,970,576G/T—likely benign
rs75462901216:20,970,610C/T—uncertain significance
rs76964615416:20,970,621G/A—uncertain significance
rs14036287316:20,970,634T/C—uncertain significance
rs128428430316:20,970,646T/C—uncertain significance
rs75107444316:20,970,709C/T—uncertain significance
rs5575054016:20,972,691T/Cintron variant—
rs14074026616:20,974,614G/A—uncertain significance
rs14360451816:20,974,691C/T—benign
rs20067667216:20,974,702C/T—uncertain significance
rs75828730316:20,974,719A/G—uncertain significance
rs11153952016:20,974,740C/T—likely benign
rs77623734616:20,974,767C/T—likely pathogenic
rs76150599116:20,974,768G/A—uncertain significance
rs37521152416:20,974,800C/A—uncertain significance
rs74742636316:20,974,946C/T—likely pathogenic
rs76911614216:20,974,951C/T—uncertain significance
rs14718557516:20,975,003G/A—likely benign
rs254448705916:20,975,070A/G—uncertain significance
rs14523675016:20,975,230T/G—uncertain significance
rs75808149516:20,975,244G/T—uncertain significance
rs14667747516:20,975,331A/T—uncertain significance
rs75247744516:20,975,407T/C—uncertain significance
rs76885504116:20,975,440C/G—uncertain significance
rs13919393216:20,975,546T/C—likely benign
rs54585342416:20,975,574G/A—uncertain significance
rs75505566016:20,975,614G/A—uncertain significance
rs15060630616:20,975,632G/A—uncertain significance
rs74960950316:20,975,641C/A—uncertain significance
rs13978636416:20,975,647C/T—uncertain significance
rs76823872916:20,975,683G/A—uncertain significance
rs37069932716:20,975,707C/A—uncertain significance
rs14674911816:20,975,817A/G—likely benign
rs76550043216:20,975,826A/G—uncertain significance
rs78063228716:20,975,846C/A—uncertain significance
rs13945408516:20,975,854C/T—uncertain significance
rs13928240016:20,975,913G/A—uncertain significance
rs103409395716:20,976,043G/T—uncertain significance
rs20019028516:20,976,156C/Tmissense variant—
rs75487909516:20,976,176G/A—likely benign
rs75958615716:20,976,204A/G—uncertain significance
rs77585450916:20,976,219G/C—uncertain significance
rs77707045116:20,976,235G/A—conflicting classifications of pathogenicity
rs76488801816:20,976,249C/A—uncertain significance
rs75479020116:20,976,261G/T—uncertain significance
rs208498855816:20,976,301T/C—uncertain significance
rs141441288416:20,976,324G/A—uncertain significance
rs130689266916:20,976,378A/G—uncertain significance
rs56808783916:20,976,385C/T—uncertain significance
rs14339967316:20,976,403G/A—uncertain significance
rs77035099416:20,976,520G/A—uncertain significance
rs77169653816:20,976,552C/T—uncertain significance
rs14433808216:20,976,570G/A—uncertain significance
rs77300361816:20,976,705A/G—uncertain significance
rs121918299516:20,976,706G/A—uncertain significance
rs100135282716:20,981,144G/C—uncertain significance
rs77193218716:20,981,204T/C—uncertain significance
rs7697921116:20,981,226G/C—benign
rs14934440016:20,981,236G/A—uncertain significance
rs93034163716:20,986,664A/G—uncertain significance
rs20115364716:20,986,697T/C—uncertain significance
rs254460528916:20,986,701G/T—uncertain significance
rs14537562516:20,990,740G/A—conflicting classifications of pathogenicity

Showing 100 of 327 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.