DNAL1

dynein axonemal light chain 1

Summary

This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

Known Variants79 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11645775014:74,111,588C/T—benign
rs87665778414:74,111,729T/G—uncertain significance
rs145652797714:74,111,753C/G—likely benign
rs57291304114:74,111,754C/A—likely benign
rs74701112914:74,111,762C/T—likely benign
rs93965178714:74,121,531C/T—likely benign
rs18592426914:74,121,535T/C—conflicting classifications of pathogenicity
rs77604720014:74,121,540T/G—likely benign
rs132770139614:74,121,545T/A—likely benign
rs57614753414:74,121,546A/T—likely benign
rs126563070714:74,121,552G/A—likely benign
rs250296444514:74,121,562A/G—uncertain significance
rs76393214714:74,121,580G/A—uncertain significance
rs94810420614:74,121,581C/T—uncertain significance
rs189118039614:74,121,596C/T—likely benign
rs75133264014:74,121,597A/G—benign
rs250296456714:74,121,601G/A—likely benign
rs7329538114:74,121,714T/C—benign
rs1162267814:74,121,761T/G—benign
rs1712914414:74,125,434G/A—benign
rs159520469914:74,125,541T/C—likely benign
rs74849649914:74,125,546A/G—conflicting classifications of pathogenicity
rs77496416014:74,125,588G/C—uncertain significance
rs214003099814:74,125,636C/T—likely benign
rs20216139914:74,125,639G/A—likely benign
rs214003101314:74,125,643A/G—uncertain significance
rs189127700914:74,125,673T/C—likely benign
rs76741568014:74,128,670T/G—likely benign
rs20188056114:74,128,678G/C—benign
rs123941458814:74,128,683T/C—likely benign
rs159520727714:74,128,718G/C—uncertain significance
rs37491686914:74,128,737A/G—uncertain significance
rs4550819514:74,128,945A/G—benign
rs287862614:74,129,118C/Aregulatory region variant—
rs74730211614:74,138,232C/G—likely benign
rs78168029414:74,138,257T/G—uncertain significance
rs74631461914:74,138,270A/G—likely benign
rs88605068514:74,138,279C/T—likely benign
rs214004251314:74,138,299T/C—uncertain significance
rs77373164114:74,138,304G/C—uncertain significance
rs7500932214:74,138,390G/A—benign
rs4559953214:74,138,442A/G—benign
rs130865088714:74,153,945A/T—likely benign
rs250301033214:74,153,947T/A—likely benign
rs250301038014:74,153,950G/C—likely benign
rs134682917014:74,153,976C/T—likely benign
rs125287806714:74,153,993G/A—pathogenic
rs250301056214:74,154,018G/A—likely benign
rs132408598014:74,154,027G/A—likely benign
rs18692720714:74,154,045A/G—likely benign
rs75763129614:74,154,046T/C—likely benign
rs116841460014:74,154,059A/G—uncertain significance
rs14991109314:74,154,097A/G—benign
rs100929514:74,154,154A/G—benign
rs6200494814:74,155,766G/T—benign
rs11422388714:74,156,031G/A—benign
rs14187394314:74,156,101C/G—conflicting classifications of pathogenicity
rs38790702114:74,156,135A/Gmissense variantpathogenic
rs77688888014:74,156,155T/G—uncertain significance
rs159522584314:74,156,158G/T—uncertain significance
rs115829945714:74,156,169C/T—likely benign
rs37257299614:74,156,172G/A—pathogenic
rs19077845414:74,156,176G/A—uncertain significance
rs15063670014:74,156,178A/G—likely benign
rs77068188014:74,156,184A/T—likely benign
rs189211473514:74,156,187C/G—likely benign
rs3528433514:74,156,203C/T—conflicting classifications of pathogenicity
rs189211550014:74,156,216A/G—uncertain significance
rs7272172514:74,156,229C/G—likely benign
rs7329742214:74,156,245A/G—benign
rs6200494914:74,156,316C/T—benign
rs11390049014:74,156,755G/A——
rs1162503614:74,162,452G/C—benign
rs155540359714:74,162,603A/G—uncertain significance
rs250302355414:74,162,631G/A—uncertain significance
rs37286781314:74,162,677T/C—likely benign
rs800310514:74,162,845C/G—benign
rs657413814:74,162,850C/T—benign
rs104373214:74,168,625G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.