DNAI2

dynein axonemal intermediate chain 2

Summary

The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]

Known Variants634 total

rsidPosition (GRCh37)AllelesClassClinVar
rs187768717:72,270,442A/G—benign
rs55171532117:72,270,474G/A—uncertain significance
rs75335553917:72,270,475C/T—uncertain significance
rs75449725617:72,270,479C/A—uncertain significance
rs6206570217:72,277,689G/A—benign
rs7399694917:72,277,745G/C—likely benign
rs380379217:72,277,879G/A—benign
rs37009038317:72,277,950C/T—likely benign
rs75798980817:72,277,953C/T—uncertain significance
rs214387351717:72,277,965T/C—likely benign
rs77218502417:72,277,967T/C—uncertain significance
rs77556781317:72,277,968G/T—likely benign
rs76084560517:72,277,971C/A—pathogenic
rs126651402117:72,277,974G/A—likely benign
rs76438144617:72,277,977C/G—pathogenic
rs214387374817:72,277,983G/A—likely benign
rs250968147217:72,277,986G/A—likely benign
rs76230542617:72,277,988G/A—uncertain significance
rs214387382017:72,277,989C/T—likely benign
rs101069175117:72,277,992C/T—likely benign
rs53381414317:72,277,995G/A—conflicting classifications of pathogenicity
rs130528259017:72,277,998C/T—likely benign
rs75899761217:72,277,999G/A—conflicting classifications of pathogenicity
rs75112154217:72,278,001G/A—likely benign
rs77742554317:72,278,006A/C—uncertain significance
rs102929550617:72,278,007G/A—likely benign
rs74656862617:72,278,013T/C—likely benign
rs74788822017:72,278,019G/C—likely benign
rs128930725517:72,278,022C/T—likely benign
rs214387435417:72,278,025C/T—likely benign
rs77766249817:72,278,026C/G—uncertain significance
rs74917281217:72,278,031C/G—likely benign
rs37235731317:72,278,034G/A—likely benign
rs74710481417:72,278,041A/G—likely benign
rs76874733217:72,278,043C/T—likely benign
rs250968182017:72,278,046C/T—likely benign
rs14432824917:72,278,051T/A—uncertain significance
rs129762336717:72,278,059C/G—uncertain significance
rs205141329717:72,278,066T/C—uncertain significance
rs37407090017:72,278,067G/A—likely benign
rs76348997917:72,278,070C/G—likely benign
rs14888554717:72,278,071G/A—uncertain significance
rs106050220017:72,278,075A/G—uncertain significance
rs127486619017:72,278,076G/T—uncertain significance
rs54243998917:72,278,079C/T—conflicting classifications of pathogenicity
rs15117631317:72,278,080G/A—likely benign
rs214387498417:72,278,082G/A—likely benign
rs76704234917:72,278,086C/T—uncertain significance
rs14807312217:72,278,090A/G—conflicting classifications of pathogenicity
rs75574167517:72,278,100C/T—likely benign
rs37471533017:72,278,102C/T—uncertain significance
rs36901794017:72,278,103G/A—likely benign
rs250968220017:72,278,110C/T—pathogenic
rs14111873817:72,278,115C/T—likely benign
rs19956276817:72,278,118G/A—likely benign
rs205141819717:72,278,121C/T—likely benign
rs250968228317:72,278,126T/C—uncertain significance
rs20180245517:72,278,129C/T—uncertain significance
rs127170454617:72,278,136C/T—likely benign
rs76347321117:72,278,151C/T—likely benign
rs127895883817:72,278,153C/T—likely benign
rs250968240617:72,278,154C/T—likely benign
rs77156490217:72,278,159G/T—likely benign
rs7265691517:72,278,190C/G—likely benign
rs14829030817:72,281,022A/G—likely benign
rs11229620017:72,281,091G/A—likely benign
rs250969233317:72,281,159T/G—likely benign
rs77459754917:72,281,164C/A—likely benign
rs250969237617:72,281,166G/A—likely benign
rs214390243117:72,281,170T/C—likely benign
rs214390245217:72,281,171C/T—likely benign
rs159827805917:72,281,178G/A—likely pathogenic
rs250969245217:72,281,187A/T—likely benign
rs37122665917:72,281,191C/T—uncertain significance
rs14747075217:72,281,192G/T—conflicting classifications of pathogenicity
rs76373181117:72,281,193G/A—likely benign
rs140004102517:72,281,199G/C—uncertain significance
rs250969255717:72,281,208C/T—likely benign
rs20066813417:72,281,210G/A—uncertain significance
rs214390290517:72,281,220C/G—uncertain significance
rs250969262117:72,281,223T/C—likely benign
rs37035254517:72,281,226C/T—likely benign
rs3598507117:72,281,229G/A—likely benign
rs77811474317:72,281,247C/T—likely benign
rs74946863517:72,281,248G/C—uncertain significance
rs88603867817:72,281,253C/T—likely benign
rs120097933917:72,281,260G/A—uncertain significance
rs146955010417:72,281,262G/A—likely benign
rs100272280917:72,281,265G/A—likely benign
rs103378334417:72,281,274C/T—likely benign
rs20152114217:72,281,279G/A—uncertain significance
rs116271966517:72,281,284C/T—uncertain significance
rs77592667317:72,281,285G/A—likely benign
rs20012580517:72,281,291A/C—uncertain significance
rs250969292117:72,281,292A/G—likely benign
rs37624701317:72,281,295G/C—likely benign
rs19953581317:72,281,298G/A—likely benign
rs76138965817:72,281,312A/T—conflicting classifications of pathogenicity
rs76481276317:72,281,313C/T—conflicting classifications of pathogenicity
rs20035826717:72,281,314G/A—uncertain significance

Showing 100 of 634 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.