IFT43

intraflagellar transport 43

Summary

This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Known Variants226 total

rsidPosition (GRCh37)AllelesClassClinVar
rs38790710714:76,452,130A/Gmissense variantpathogenic
rs76972450814:76,452,131T/Amissense variantpathogenic
rs14477660914:76,452,137A/G—conflicting classifications of pathogenicity
rs76905869614:76,452,138T/C—likely benign
rs130978246614:76,452,139T/A—uncertain significance
rs77469410714:76,452,144C/T—likely benign
rs20196679214:76,452,145G/C—conflicting classifications of pathogenicity
rs130097879814:76,452,148T/A—uncertain significance
rs76118993714:76,452,149T/C—uncertain significance
rs19392109514:76,452,150G/T—uncertain significance
rs122584048914:76,452,151G/T—uncertain significance
rs75986901614:76,452,153C/A—uncertain significance
rs75118364614:76,452,154G/T—pathogenic
rs76699472814:76,452,155A/T—uncertain significance
rs102367141414:76,452,158A/G—uncertain significance
rs75033300214:76,452,159G/T—uncertain significance
rs75618899714:76,452,160C/T—uncertain significance
rs74914571914:76,452,163C/A—uncertain significance
rs77903761814:76,452,165C/T—likely benign
rs74835615314:76,452,168C/T—likely benign
rs203550912714:76,452,180C/T—likely benign
rs77147372514:76,452,185T/A—likely pathogenic
rs91731804514:76,452,197C/T—likely benign
rs37250536714:76,452,198G/A—likely benign
rs76707278514:76,452,199G/T—likely benign
rs37264156614:76,452,202G/C—likely benign
rs213985197214:76,452,203C/A—likely benign
rs20068524814:76,455,211T/C—benign
rs14638623314:76,455,213T/A—benign
rs213986030214:76,455,219T/A—likely benign
rs19188527614:76,455,224A/G—likely benign
rs99507502514:76,455,243C/T—uncertain significance
rs77039125014:76,455,244G/A—uncertain significance
rs78040433914:76,455,246C/T—conflicting classifications of pathogenicity
rs133024249214:76,455,264G/C—uncertain significance
rs14793311214:76,455,265C/T—uncertain significance
rs76034998414:76,455,266G/A—likely benign
rs134031825914:76,455,271C/A—uncertain significance
rs75894367914:76,455,272C/T—likely benign
rs14036655714:76,455,273G/Amissense variantpathogenic
rs14432790314:76,455,277A/G—uncertain significance
rs105579480114:76,455,285A/G—uncertain significance
rs250303996014:76,455,298C/T—uncertain significance
rs15113708714:76,455,309C/T—likely benign
rs78137974814:76,455,311G/C—likely benign
rs78064403014:76,455,316G/A—uncertain significance
rs130469414814:76,455,324G/T—uncertain significance
rs77935732614:76,455,327G/A—likely benign
rs74852303114:76,455,329T/C—likely benign
rs127105258714:76,455,340A/C—likely benign
rs15036145114:76,488,550C/T—likely benign
rs205894114:76,488,551A/G—benign
rs11149107414:76,488,605A/T—likely benign
rs18376985114:76,488,655T/C—benign
rs75549209514:76,488,656C/T—likely benign
rs74857620914:76,488,668A/C—likely pathogenic
rs78102542314:76,488,684A/G—likely benign
rs55540465614:76,488,691C/T—benign
rs77492229314:76,488,692G/A—uncertain significance
rs76861983714:76,488,696C/T—likely benign
rs75678614014:76,488,698G/A—uncertain significance
rs203630801514:76,488,702G/A—likely benign
rs76161824114:76,488,706G/T—uncertain significance
rs76660654514:76,488,717T/A—likely benign
rs14012754314:76,488,723C/T—conflicting classifications of pathogenicity
rs55780792014:76,488,724G/A—conflicting classifications of pathogenicity
rs97279533514:76,488,730G/C—uncertain significance
rs93972371514:76,488,736A/C—uncertain significance
rs132087926514:76,488,746C/G—likely benign
rs250310691014:76,488,749C/A—likely benign
rs75321868114:76,488,755A/G—likely benign
rs203631007514:76,488,757A/G—likely benign
rs11293531614:76,488,871A/G—likely benign
rs6152812514:76,488,952C/T—benign
rs7500288214:76,496,477G/Tintron variant—
rs932362414:76,500,303T/A——
rs7991608414:76,524,793G/T—benign
rs20078156114:76,524,968T/G—likely benign
rs230285614:76,525,515A/C—benign
rs230285714:76,525,553A/G—benign
rs54772103514:76,525,674C/T—likely benign
rs230285814:76,525,675G/A—benign
rs53978191214:76,525,692C/G—likely benign
rs1243338514:76,539,335C/T——
rs714089214:76,542,856A/G—benign
rs76666675014:76,542,920G/A—likely benign
rs123403633514:76,542,925C/G—likely benign
rs250320487214:76,542,926A/C—likely benign
rs53170909214:76,542,931C/A—likely benign
rs214009007914:76,542,936C/T—likely benign
rs100955745314:76,542,939G/T—likely pathogenic
rs75112239214:76,542,940C/T—likely pathogenic
rs75670083614:76,542,941G/A—uncertain significance
rs250320494514:76,542,945C/T—uncertain significance
rs75034640414:76,542,955C/A—likely benign
rs75597753514:76,542,957A/G—uncertain significance
rs250320498414:76,542,958A/G—likely benign
rs54034118914:76,542,967G/A—likely benign
rs95548975614:76,542,976C/T—likely benign
rs15037378814:76,542,977G/A—conflicting classifications of pathogenicity

Showing 100 of 226 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.