DNAAF2

dynein axonemal assembly factor 2

Summary

This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

Known Variants431 total

rsidPosition (GRCh37)AllelesClassClinVar
rs188297155514:50,092,047T/C—uncertain significance
rs88605052514:50,092,069T/C—uncertain significance
rs101000797914:50,092,103T/C—uncertain significance
rs37101357314:50,092,260T/C—likely benign
rs122937149214:50,092,269A/G—likely benign
rs36819596414:50,092,271C/A—uncertain significance
rs148845998114:50,092,275T/C—likely benign
rs77407257614:50,092,284A/G—likely benign
rs15105129314:50,092,299T/C—likely benign
rs90977430214:50,092,314A/G—likely benign
rs77778576914:50,092,325T/C—uncertain significance
rs156650742014:50,092,328C/T—uncertain significance
rs74902987014:50,092,334C/A—uncertain significance
rs78041616614:50,092,345T/C—uncertain significance
rs74729075214:50,092,346G/A—conflicting classifications of pathogenicity
rs128712671514:50,092,348A/C—uncertain significance
rs250275183114:50,092,351T/C—uncertain significance
rs159460205814:50,092,353G/C—likely benign
rs188298245814:50,092,358C/A—uncertain significance
rs20182664114:50,092,359T/C—likely benign
rs123566680814:50,092,370C/T—uncertain significance
rs188298353914:50,092,381A/G—uncertain significance
rs14099718114:50,092,386G/A—conflicting classifications of pathogenicity
rs18536130614:50,092,393G/A—uncertain significance
rs75916463714:50,092,394T/C—uncertain significance
rs75209521114:50,092,401G/A—likely benign
rs137956791714:50,092,410T/C—likely benign
rs134520398214:50,092,421G/T—uncertain significance
rs77889926714:50,092,436C/G—uncertain significance
rs75511416414:50,092,443T/C—likely benign
rs136344701014:50,092,450A/T—uncertain significance
rs146979555214:50,092,460C/T—uncertain significance
rs74985509014:50,092,461G/A—likely benign
rs14893658414:50,092,493T/C—conflicting classifications of pathogenicity
rs90181579014:50,092,505C/A—uncertain significance
rs72750296514:50,092,562T/C—likely benign
rs140312233714:50,092,563T/C—likely benign
rs250275258314:50,092,567G/A—uncertain significance
rs75013691514:50,092,569A/T—likely benign
rs75303154514:50,092,578A/G—likely benign
rs77788284414:50,092,583C/G—uncertain significance
rs14711055414:50,092,587T/C—benign
rs77139164314:50,092,594C/A—uncertain significance
rs77940317114:50,092,596T/C—likely benign
rs8023747914:50,092,598T/C—likely benign
rs77554251414:50,092,611G/A—likely benign
rs142584559314:50,092,626T/G—likely benign
rs99772789014:50,092,635T/G—likely benign
rs96130373114:50,092,640T/C—uncertain significance
rs250275285914:50,092,649C/A—uncertain significance
rs250275293514:50,092,666G/T—uncertain significance
rs155532743014:50,092,668G/A—conflicting classifications of pathogenicity
rs133776417414:50,092,672C/A—uncertain significance
rs122490945714:50,092,682T/C—uncertain significance
rs250275306914:50,092,705C/A—uncertain significance
rs75387013314:50,092,721T/C—uncertain significance
rs250275312314:50,092,728C/T—likely benign
rs95356443914:50,092,739G/A—likely benign
rs74759527914:50,092,776G/A—likely benign
rs94645768514:50,092,778G/C—likely benign
rs188299839314:50,092,785C/T—likely benign
rs14572338114:50,092,875C/T—likely benign
rs298569714:50,092,902T/C—benign
rs300704114:50,094,430A/G—benign
rs657259314:50,094,495C/T—benign
rs657259414:50,094,639G/A—benign
rs88603864614:50,094,715C/T—likely benign
rs76422941514:50,094,720A/G—likely benign
rs37725501914:50,094,724C/T—uncertain significance
rs75731357914:50,094,725C/T—uncertain significance
rs120178586714:50,094,736A/G—likely benign
rs75889735714:50,094,754A/T—uncertain significance
rs18786310714:50,094,768G/A—conflicting classifications of pathogenicity
rs159460380514:50,094,777T/C—uncertain significance
rs188305589314:50,094,783G/C—uncertain significance
rs3435277314:50,094,784T/C—conflicting classifications of pathogenicity
rs14729979114:50,094,788G/A—uncertain significance
rs117500475514:50,094,790C/T—likely benign
rs101024084314:50,094,793G/C—likely benign
rs188305703114:50,094,798T/C—uncertain significance
rs74878231614:50,094,805T/A—uncertain significance
rs77085710914:50,094,806T/C—uncertain significance
rs159460384314:50,094,811T/G—likely benign
rs75931875114:50,094,823G/A—likely benign
rs76735528114:50,094,826C/T—likely benign
rs250275651014:50,094,831C/A—pathogenic
rs18312642814:50,094,846C/T—uncertain significance
rs122269821214:50,094,849T/A—uncertain significance
rs159460386914:50,094,850T/C—likely benign
rs101792527314:50,094,852C/T—uncertain significance
rs124809916414:50,094,857T/C—uncertain significance
rs119809800214:50,094,886G/C—likely benign
rs18845580814:50,094,911T/C—likely benign
rs298569614:50,094,913C/A—benign
rs76048401014:50,099,986C/T—likely benign
rs6082250814:50,099,989T/C—benign
rs122487411014:50,100,012G/A—uncertain significance
rs14709021314:50,100,017G/A—likely benign
rs75209232914:50,100,027C/T—uncertain significance
rs76016230414:50,100,029A/G—likely benign

Showing 100 of 431 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.