IFT80

intraflagellar transport 80

Summary

The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

Known Variants536 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1178230972	3:159,974,948	G/C	—	uncertain significance
rs552228241	3:159,975,059	G/A	—	uncertain significance
rs888235238	3:159,975,091	A/G	—	uncertain significance
rs144132950	3:159,975,109	C/T	—	benign
rs576160607	3:159,975,192	A/G	—	uncertain significance
rs981397224	3:159,975,203	T/C	—	uncertain significance
rs181651029	3:159,975,224	A/G	—	likely benign
rs976734188	3:159,975,369	T/C	—	uncertain significance
rs545408223	3:159,975,376	T/A	—	uncertain significance
rs537207877	3:159,975,426	A/G	—	uncertain significance
rs886058125	3:159,975,469	C/A	—	uncertain significance
rs527576092	3:159,975,516	T/G	—	uncertain significance
rs547025505	3:159,975,521	A/C	—	uncertain significance
rs146492619	3:159,975,546	C/G	—	uncertain significance
rs1012212219	3:159,975,573	C/A	—	uncertain significance
rs141039735	3:159,975,636	T/C	—	uncertain significance
rs560527597	3:159,975,654	G/C	—	uncertain significance
rs886058126	3:159,975,762	T/C	—	uncertain significance
rs886058127	3:159,975,773	T/C	—	uncertain significance
rs778131263	3:159,975,896	T/C	—	uncertain significance
rs1354614636	3:159,975,916	T/C	—	uncertain significance
rs949785139	3:159,975,994	C/T	—	uncertain significance
rs1044166523	3:159,975,995	G/A	—	uncertain significance
rs769437271	3:159,976,183	C/G	—	uncertain significance
rs180992676	3:159,976,205	T/C	—	uncertain significance
rs886058128	3:159,976,209	C/T	—	uncertain significance
rs529617151	3:159,976,211	G/T	—	uncertain significance
rs1712528091	3:159,976,219	T/C	—	uncertain significance
rs16831149	3:159,976,271	C/T	—	benign
rs1387613728	3:159,976,318	G/A	—	uncertain significance
rs199662960	3:159,976,325	A/G	—	likely benign
rs2473034628	3:159,976,329	A/G	—	uncertain significance
rs565364572	3:159,976,340	G/A	—	conflicting classifications of pathogenicity
rs778690591	3:159,976,345	G/A	—	uncertain significance
rs745522185	3:159,976,350	C/G	—	uncertain significance
rs376683399	3:159,976,355	T/C	—	likely benign
rs142438830	3:159,976,358	T/C	—	conflicting classifications of pathogenicity
rs774118255	3:159,976,361	C/T	—	likely benign
rs112640410	3:159,976,365	C/G	—	uncertain significance
rs891421267	3:159,976,402	T/C	—	uncertain significance
rs769905264	3:159,976,403	T/A	—	uncertain significance
rs1174856257	3:159,976,418	T/C	—	likely benign
rs763284318	3:159,976,422	A/T	—	uncertain significance
rs1483249045	3:159,976,430	T/C	—	likely benign
rs752574778	3:159,976,432	G/A	—	conflicting classifications of pathogenicity
rs1300785034	3:159,976,441	A/G	—	likely benign
rs115849906	3:159,986,181	C/T	—	likely benign
rs769856006	3:159,986,186	T/C	—	likely benign
rs2473069309	3:159,986,190	G/C	—	likely benign
rs2108209837	3:159,986,209	C/T	—	uncertain significance
rs886058129	3:159,986,219	G/A	—	uncertain significance
rs1429502931	3:159,986,223	C/T	—	uncertain significance
rs375941259	3:159,986,224	G/A	—	conflicting classifications of pathogenicity
rs977361551	3:159,986,245	C/T	—	uncertain significance
rs997566753	3:159,986,250	G/A	—	uncertain significance
rs201820395	3:159,986,266	G/T	—	conflicting classifications of pathogenicity
rs551983792	3:159,986,268	C/T	—	conflicting classifications of pathogenicity
rs764764460	3:159,986,269	G/A	—	uncertain significance
rs749975436	3:159,986,273	A/T	—	likely benign
rs370294182	3:159,986,275	C/T	—	uncertain significance
rs751917876	3:159,986,282	T/A	—	likely benign
rs16831157	3:159,986,285	A/G	—	benign
rs1713528985	3:159,986,286	T/C	—	uncertain significance
rs781425551	3:159,986,292	T/C	—	uncertain significance
rs1281270349	3:159,986,300	G/C	—	pathogenic
rs2473070199	3:159,986,305	T/A	—	pathogenic
rs943067730	3:159,986,308	C/T	—	uncertain significance
rs777972752	3:159,986,321	T/C	—	likely benign
rs137853116	3:159,986,323	C/G	missense variant	pathogenic
rs373671362	3:159,986,324	C/G	—	uncertain significance
rs1205995744	3:159,986,337	A/G	—	likely benign
rs1484117040	3:159,986,341	A/G	—	likely benign
rs10936199	3:159,994,945	T/C	—	benign
rs539564457	3:159,995,075	T/G	—	likely benign
rs376944901	3:159,995,084	T/C	—	likely benign
rs754398043	3:159,995,090	T/C	—	conflicting classifications of pathogenicity
rs1466884033	3:159,995,094	C/T	—	uncertain significance
rs1273119646	3:159,995,099	C/T	—	pathogenic
rs2473099394	3:159,995,107	A/G	—	uncertain significance
rs1397736444	3:159,995,108	G/T	—	likely benign
rs2473099415	3:159,995,110	G/C	—	uncertain significance
rs1441275758	3:159,995,120	G/T	—	likely benign
rs556978349	3:159,995,132	T/C	—	likely benign
rs539267353	3:159,995,143	G/A	—	conflicting classifications of pathogenicity
rs367915575	3:159,995,144	G/A	—	likely benign
rs1302753011	3:159,995,145	C/A	—	likely pathogenic
rs2473099506	3:159,995,150	C/T	—	likely benign
rs2108225990	3:159,995,153	A/T	—	likely benign
rs2473099519	3:159,995,154	A/G	—	uncertain significance
rs747952085	3:159,995,155	G/A	—	uncertain significance
rs773068068	3:159,995,159	T/A	—	likely benign
rs762893736	3:159,995,160	A/C	—	uncertain significance
rs1714347314	3:159,995,165	T/G	—	uncertain significance
rs2473099560	3:159,995,168	A/C	—	likely benign
rs1459233110	3:159,995,173	C/T	—	uncertain significance
rs767128122	3:159,995,179	T/C	—	uncertain significance
rs754345105	3:159,995,196	A/G	—	uncertain significance
rs886058130	3:159,995,200	T/A	—	uncertain significance
rs1559914730	3:159,995,202	T/C	—	uncertain significance
rs757868715	3:159,995,231	A/G	—	likely benign

Showing 100 of 536 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.