DNAH11

dynein axonemal heavy chain 11

Summary

This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]

Known Variants4,777 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77885157:21,580,679G/Aupstream gene variant—
rs117603367:21,582,516T/C—benign
rs726559657:21,582,728T/G—benign
rs1831700507:21,582,745C/T—likely benign
rs726559667:21,582,837A/C—conflicting classifications of pathogenicity
rs8860384557:21,582,850C/T—likely benign
rs11625266077:21,582,864A/G—likely pathogenic
rs13550682877:21,582,865T/G—likely pathogenic
rs12270646997:21,582,871C/A—conflicting classifications of pathogenicity
rs25344086407:21,582,872C/G—likely benign
rs7559663117:21,582,882G/A—conflicting classifications of pathogenicity
rs7796641747:21,582,884C/T—benign
rs12841410987:21,582,886G/T—benign
rs14893536437:21,582,887G/C—likely benign
rs7536451867:21,582,888G/T—pathogenic
rs7586589167:21,582,894C/G—likely benign
rs14718673917:21,582,895G/A—conflicting classifications of pathogenicity
rs11800277567:21,582,899C/G—benign
rs25344088767:21,582,902C/T—likely benign
rs13870770037:21,582,907A/T—likely benign
rs10005256717:21,582,910C/T—likely benign
rs13584083817:21,582,913C/T—benign
rs14020357907:21,582,914G/A—likely benign
rs10392339447:21,582,916C/T—benign
rs22859427:21,582,917C/T—likely benign
rs25344090057:21,582,918C/T—uncertain significance
rs726559677:21,582,921C/A—conflicting classifications of pathogenicity
rs25344090577:21,582,926A/C—likely benign
rs15626483517:21,582,928C/T—uncertain significance
rs7458422207:21,582,931C/T—conflicting classifications of pathogenicity
rs2018040297:21,582,936G/C—likely benign
rs7463090427:21,582,941C/G—likely benign
rs7702219137:21,582,942C/G—benign
rs12438326827:21,582,947G/A—likely benign
rs14451064767:21,582,950A/G—benign
rs10047774207:21,582,951G/A—benign
rs12194606827:21,582,956C/T—likely benign
rs14011258047:21,582,960G/A—uncertain significance
rs25344093557:21,582,962G/A—likely benign
rs22859437:21,582,963G/T—benign
rs22859447:21,582,964A/T—benign
rs14061860237:21,582,965G/A—benign
rs13073843097:21,582,967T/G—benign
rs11769789997:21,582,968C/A—likely benign
rs9431421467:21,582,969G/C—benign
rs5375963877:21,582,970A/G—benign
rs7482506117:21,582,989G/A—conflicting classifications of pathogenicity
rs15834677487:21,582,990G/C—uncertain significance
rs14573968657:21,582,992G/A—benign
rs12036594237:21,582,993G/T—pathogenic
rs7504079947:21,582,994A/C—benign
rs7723330477:21,582,996G/A—conflicting classifications of pathogenicity
rs9181166157:21,582,999G/C—uncertain significance
rs5574084627:21,583,000C/T—benign
rs9455147757:21,583,001G/A—benign
rs11781657877:21,583,011G/A—benign
rs7536345027:21,583,015G/C—conflicting classifications of pathogenicity
rs9783738257:21,583,031C/G—conflicting classifications of pathogenicity
rs25344099607:21,583,033C/G—uncertain significance
rs25344099857:21,583,037G/A—likely benign
rs12842155107:21,583,038G/A—conflicting classifications of pathogenicity
rs7517213737:21,583,040G/T—likely benign
rs12560717867:21,583,041C/T—benign
rs7573493717:21,583,042G/C—conflicting classifications of pathogenicity
rs7810892337:21,583,043C/T—conflicting classifications of pathogenicity
rs5711428737:21,583,046C/T—likely benign
rs9698421407:21,583,048T/C—uncertain significance
rs14764693057:21,583,049C/T—likely benign
rs69665257:21,583,051G/C—benign
rs3692859437:21,583,058C/T—likely benign
rs13889888097:21,583,064G/A—likely benign
rs7716238317:21,583,075G/A—benign
rs5425134757:21,583,076G/T—likely benign
rs25344102687:21,583,079C/T—likely benign
rs10519314867:21,583,082G/A—likely benign
rs7537411237:21,583,083G/A—conflicting classifications of pathogenicity
rs8863097837:21,583,085G/A—likely benign
rs21284248497:21,583,090A/G—uncertain significance
rs7593392387:21,583,096G/A—likely benign
rs14877269937:21,583,097C/G—uncertain significance
rs12631719967:21,583,100G/A—likely benign
rs21284248567:21,583,102A/G—uncertain significance
rs17826665247:21,583,103T/C—likely benign
rs11573751927:21,583,112C/T—likely benign
rs25344103927:21,583,116G/A—uncertain significance
rs5604225537:21,583,122C/T—conflicting classifications of pathogenicity
rs3727621327:21,583,126A/G—likely benign
rs7677532347:21,583,127G/A—likely benign
rs7505226607:21,583,133T/C—likely benign
rs10161399877:21,583,136G/T—likely benign
rs13118986257:21,583,143C/T—likely benign
rs13804103617:21,583,146G/C—uncertain significance
rs17826692877:21,583,148A/G—likely benign
rs5764862897:21,583,151C/T—likely benign
rs9922850917:21,583,158C/G—likely benign
rs8860384617:21,583,160G/T—likely benign
rs9669070447:21,583,165G/C—likely benign
rs12065582657:21,583,168T/C—uncertain significance
rs12534661477:21,583,170G/A—benign
rs7554273087:21,583,177G/C—uncertain significance

Showing 100 of 4,777 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.