IFT52

intraflagellar transport 52

Summary

This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]

Known Variants173 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13878776820:42,223,350G/C—uncertain significance
rs117464941120:42,223,380C/T—likely benign
rs251562191220:42,223,401C/G—likely benign
rs37730701220:42,223,403A/C—uncertain significance
rs54771001520:42,223,435C/T—uncertain significance
rs56723243520:42,223,442A/G—uncertain significance
rs18421330120:42,223,462C/T—likely benign
rs74932024220:42,223,468A/T—likely benign
rs74639598320:42,223,472A/G—likely benign
rs145712774120:42,223,477G/A—likely benign
rs5775184020:42,223,689C/G—benign
rs20048199920:42,225,065G/A—likely benign
rs160101946820:42,225,070T/C—likely benign
rs20122551020:42,225,075C/G—uncertain significance
rs75592907320:42,225,076T/C—likely benign
rs75406726720:42,225,090C/T—likely benign
rs251562515920:42,225,099G/T—uncertain significance
rs13797976220:42,225,112G/A—uncertain significance
rs266451920:42,225,114G/A—benign
rs37671517320:42,225,143A/G—uncertain significance
rs198197214620:42,225,151A/G—uncertain significance
rs198197271220:42,225,156A/G—likely benign
rs123374468220:42,225,177C/T—likely benign
rs120842825420:42,232,397T/A—uncertain significance
rs77882297620:42,232,408C/A—likely benign
rs118698191520:42,232,411G/A—likely benign
rs214559855920:42,232,417A/G—likely benign
rs214559856520:42,232,419A/G—uncertain significance
rs198263741620:42,232,430G/A—uncertain significance
rs75538230720:42,232,450G/A—uncertain significance
rs36772659820:42,232,451C/T—likely benign
rs116717723720:42,232,476T/C—uncertain significance
rs214559880320:42,232,482C/T—uncertain significance
rs198264464820:42,232,483C/T—likely benign
rs53099998420:42,232,485A/G—pathogenic
rs142541204620:42,232,506A/G—uncertain significance
rs14114237420:42,232,525T/C—likely benign
rs75064219720:42,232,537G/T—likely benign
rs20143537620:42,232,540T/G—likely benign
rs198265161520:42,232,542A/C—likely benign
rs76662532420:42,232,543T/C—likely benign
rs130468540320:42,232,549T/C—likely benign
rs7726839620:42,232,654C/G—benign
rs14195863020:42,232,805T/C—likely benign
rs37560723720:42,232,806C/G—likely benign
rs11190132320:42,232,820T/A—conflicting classifications of pathogenicity
rs77342379820:42,232,830G/A—likely benign
rs251563828420:42,232,831G/A—uncertain significance
rs76333574620:42,232,841T/C—uncertain significance
rs75006806820:42,232,886G/A—uncertain significance
rs37346376620:42,232,917G/A—likely benign
rs251563998120:42,233,630T/C—likely benign
rs37055265820:42,233,633T/G—uncertain significance
rs74809001920:42,233,652C/Tstop gainedpathogenic
rs76967158120:42,233,653G/A—uncertain significance
rs75973703920:42,233,683T/C—uncertain significance
rs132384166220:42,233,710C/T—uncertain significance
rs481272520:42,236,454G/T——
rs7689599420:42,242,356C/A—benign
rs6081327820:42,242,452T/A—benign
rs77706414220:42,242,480T/C—likely benign
rs251565576320:42,242,493T/C—likely benign
rs36859829420:42,242,494C/T—uncertain significance
rs251565578920:42,242,505G/A—likely benign
rs14621330420:42,242,524T/C—benign
rs75552506620:42,242,549C/T—uncertain significance
rs76600438220:42,242,550G/A—likely benign
rs198365132520:42,242,560A/G—pathogenic
rs251565599820:42,242,564G/C—uncertain significance
rs198365294720:42,242,573G/C—uncertain significance
rs103167380220:42,242,575T/C—uncertain significance
rs76897998920:42,242,580A/G—likely benign
rs37213327820:42,242,586C/T—likely benign
rs88603786920:42,242,599G/Amissense variantpathogenic
rs14347650220:42,242,606A/G—benign
rs20156547020:42,242,634T/C—likely benign
rs447345020:42,242,700C/T—benign
rs251566430020:42,247,562C/T—likely benign
rs56246207020:42,247,576A/G—likely benign
rs14751323220:42,247,585A/G—likely benign
rs139420563320:42,247,616C/T—uncertain significance
rs5563451620:42,247,806T/C—benign
rs155534820:42,249,398C/T—benign
rs76605736320:42,249,489T/A—likely benign
rs75140410120:42,249,494T/G—uncertain significance
rs75479961720:42,249,498A/T—uncertain significance
rs92544253120:42,249,505T/G—likely benign
rs37372692120:42,249,519C/T—uncertain significance
rs77930591520:42,249,520G/A—likely benign
rs123439042920:42,249,524G/A—uncertain significance
rs77256712520:42,249,528A/G—uncertain significance
rs94938385320:42,249,553T/C—likely benign
rs76277608320:42,249,575G/A—likely benign
rs603099220:42,251,442A/T——
rs481039020:42,252,325G/T—benign
rs14982126620:42,252,537G/C—likely benign
rs56166437020:42,252,569A/G—benign
rs36799685720:42,252,576C/T—uncertain significance
rs14568972620:42,252,577G/A—uncertain significance
rs75730116520:42,252,582C/T—pathogenic

Showing 100 of 173 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.