IFT81

intraflagellar transport 81

Summary

The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]

Known Variants364 total

rsidPosition (GRCh37)AllelesClassClinVar
rs189390892512:110,565,187T/A—uncertain significance
rs213728989912:110,565,189A/G—uncertain significance
rs141280292912:110,565,191T/C—likely benign
rs20058187112:110,565,193A/G—uncertain significance
rs136774654612:110,565,194T/C—likely benign
rs37574389712:110,565,210A/G—conflicting classifications of pathogenicity
rs19167836012:110,565,216A/C—uncertain significance
rs14170792012:110,565,223A/G—uncertain significance
rs138743473812:110,565,231C/A—uncertain significance
rs77652441812:110,565,236T/C—likely benign
rs55174966512:110,565,249A/G—uncertain significance
rs15131185912:110,565,250A/C—likely benign
rs53531085012:110,565,260G/A—likely benign
rs129505081212:110,565,261T/C—uncertain significance
rs75122208812:110,565,272G/Cmissense variantpathogenic
rs116813484812:110,565,284A/G—likely benign
rs75457260412:110,565,287A/G—likely benign
rs78070796212:110,565,292A/G—uncertain significance
rs213729044012:110,565,294G/A—uncertain significance
rs249977559012:110,565,302T/G—uncertain significance
rs122721367112:110,565,319T/C—uncertain significance
rs249977573312:110,565,328A/T—uncertain significance
rs134720432012:110,565,335A/T—uncertain significance
rs55340622612:110,565,343C/G—likely benign
rs37527889412:110,565,831T/A—likely benign
rs146429393112:110,565,838A/G—uncertain significance
rs213729229512:110,565,855T/G—uncertain significance
rs249977820512:110,565,859G/A—likely benign
rs36787454812:110,565,861A/G—uncertain significance
rs20164198612:110,565,865C/G—uncertain significance
rs119409307512:110,565,868A/G—likely benign
rs159327187912:110,565,881G/A—uncertain significance
rs74569914012:110,565,890G/T—uncertain significance
rs37202781112:110,565,896C/T—pathogenic
rs132239559812:110,565,897G/A—uncertain significance
rs78132924112:110,565,906G/A—uncertain significance
rs74840082212:110,565,907C/A—uncertain significance
rs189395249312:110,565,916T/C—likely benign
rs74982156912:110,565,930A/G—uncertain significance
rs37670302412:110,565,939G/A—uncertain significance
rs75994871012:110,565,954T/C—uncertain significance
rs249977886512:110,565,968C/T—likely benign
rs76031679812:110,565,971G/A—likely benign
rs37649961012:110,565,973A/T—likely benign
rs76353383412:110,565,974T/C—likely benign
rs128928281012:110,566,738G/A—likely benign
rs20007967312:110,566,754G/A—pathogenic
rs76146910012:110,566,765C/T—likely pathogenic
rs77098800012:110,566,766G/A—uncertain significance
rs189400985812:110,566,770G/C—uncertain significance
rs89744163212:110,566,772G/T—uncertain significance
rs213729602512:110,566,787G/A—uncertain significance
rs37665280312:110,566,803C/T—likely benign
rs189401294412:110,566,807G/T—uncertain significance
rs213729624112:110,566,840C/T—likely benign
rs75739745812:110,566,851A/G—likely benign
rs137882562512:110,566,852G/T—uncertain significance
rs143892001112:110,566,862C/T—uncertain significance
rs96927916812:110,566,865G/A—uncertain significance
rs36936106412:110,566,871T/A—pathogenic
rs213729658312:110,566,891A/T—uncertain significance
rs74742232112:110,566,894G/A—uncertain significance
rs3468431912:110,566,907G/A—benign
rs249978389312:110,566,914T/A—likely benign
rs77642531512:110,566,918G/T—uncertain significance
rs213729668812:110,566,925C/T—uncertain significance
rs56950795812:110,566,928A/G—likely benign
rs189402103312:110,566,931A/G—uncertain significance
rs213730970912:110,570,337A/C—likely benign
rs78167787912:110,570,340T/A—likely benign
rs90674583412:110,570,342A/C—likely benign
rs100019437712:110,570,343T/C—likely benign
rs189423253512:110,570,345C/T—likely benign
rs103114330412:110,570,363A/G—likely benign
rs74884839212:110,570,383T/C—uncertain significance
rs75812998612:110,570,386A/G—uncertain significance
rs77441565312:110,570,411A/G—uncertain significance
rs189423870712:110,570,426A/G—likely benign
rs75937993612:110,570,428C/G—uncertain significance
rs213731024212:110,570,448G/A—likely benign
rs14688144212:110,570,450A/C—likely benign
rs37348214112:110,572,754A/C—uncertain significance
rs116183434112:110,572,759A/C—uncertain significance
rs189438986512:110,572,765A/G—uncertain significance
rs74889237012:110,572,770A/G—likely benign
rs74586011812:110,572,785G/A—likely benign
rs77535746112:110,572,799T/C—uncertain significance
rs189439321012:110,572,813A/G—uncertain significance
rs37583571112:110,572,827G/C—likely benign
rs5607621312:110,572,913G/A—benign
rs74540576212:110,573,112T/C—likely benign
rs213732000212:110,573,121C/T—likely benign
rs189442228312:110,573,125A/G—likely benign
rs124352828412:110,573,129T/C—uncertain significance
rs14721536212:110,573,139C/T—uncertain significance
rs74662716812:110,573,152T/G—uncertain significance
rs77108588112:110,573,156T/C—conflicting classifications of pathogenicity
rs213732030812:110,573,174A/G—uncertain significance
rs131574328112:110,573,176G/A—likely benign
rs249981272612:110,573,177C/G—uncertain significance

Showing 100 of 364 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.