IFT74

intraflagellar transport 74

Summary

This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]

Known Variants436 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs16910907	9:26,961,836	C/T	—	benign
rs1323810293	9:26,961,968	G/A	—	uncertain significance
rs2489277763	9:26,961,972	A/G	—	uncertain significance
rs202023493	9:26,961,976	A/G	—	uncertain significance
rs752644039	9:26,961,982	A/G	—	uncertain significance
rs757141641	9:26,961,988	C/A	—	pathogenic
rs780678008	9:26,961,992	A/G	—	likely benign
rs369587850	9:26,961,997	G/T	—	uncertain significance
rs747308436	9:26,962,005	T/G	—	uncertain significance
rs372863388	9:26,962,007	A/G	—	likely benign
rs1826386837	9:26,962,018	T/C	—	uncertain significance
rs759834567	9:26,962,021	G/C	—	uncertain significance
rs1352916986	9:26,962,027	C/T	—	uncertain significance
rs769696601	9:26,962,029	G/T	—	pathogenic
rs775728464	9:26,962,034	G/C	—	uncertain significance
rs1053474425	9:26,962,041	T/G	—	uncertain significance
rs1325267056	9:26,962,044	G/T	—	uncertain significance
rs892186414	9:26,962,046	G/T	—	likely benign
rs751583919	9:26,962,050	C/T	—	likely pathogenic
rs1270199428	9:26,962,055	C/G	—	likely benign
rs201259858	9:26,962,059	T/C	—	uncertain significance
rs200556379	9:26,962,071	C/T	—	pathogenic
rs753343428	9:26,962,095	A/C	—	likely benign
rs2489278462	9:26,962,098	C/G	—	likely benign
rs1456367927	9:26,962,100	A/T	—	likely benign
rs1826392562	9:26,962,101	A/G	—	likely benign
rs754523825	9:26,962,105	A/G	—	likely benign
rs3739544	9:26,962,170	C/A	—	benign
rs10967624	9:26,962,405	C/A	—	benign
rs12003566	9:26,977,802	A/G	—	benign
rs572322975	9:26,978,107	A/C	—	likely benign
rs1415090946	9:26,978,108	A/G	—	likely benign
rs1240407435	9:26,978,125	G/T	—	likely pathogenic
rs751947818	9:26,978,128	G/T	—	uncertain significance
rs1230545252	9:26,978,129	C/A	—	uncertain significance
rs764006816	9:26,978,131	A/G	—	likely benign
rs371004615	9:26,978,136	G/T	—	uncertain significance
rs1827203877	9:26,978,137	G/A	—	likely benign
rs1827204873	9:26,978,152	T/C	—	likely benign
rs546127878	9:26,978,154	C/T	—	uncertain significance
rs781437187	9:26,978,156	C/T	—	uncertain significance
rs73436007	9:26,978,157	G/A	—	uncertain significance
rs768815586	9:26,978,159	G/A	—	uncertain significance
rs2489312053	9:26,978,162	T/C	—	uncertain significance
rs1428427696	9:26,978,166	C/G	—	uncertain significance
rs62542664	9:26,978,168	A/T	—	conflicting classifications of pathogenicity
rs10812505	9:26,978,170	A/G	—	benign
rs1024826666	9:26,978,175	C/T	—	uncertain significance
rs201148958	9:26,978,178	G/A	—	likely benign
rs766183988	9:26,978,183	G/T	—	uncertain significance
rs561610559	9:26,978,186	C/T	—	likely benign
rs367699955	9:26,978,197	A/G	—	likely benign
rs1033605997	9:26,978,206	T/G	—	likely benign
rs757910179	9:26,978,207	G/T	—	uncertain significance
rs768033736	9:26,978,208	C/G	—	uncertain significance
rs756493710	9:26,978,210	C/T	—	uncertain significance
rs1424717476	9:26,978,214	G/A	—	uncertain significance
rs749453994	9:26,978,221	A/G	—	likely benign
rs779059979	9:26,978,223	C/A	—	uncertain significance
rs772093614	9:26,978,227	A/G	—	likely benign
rs2489312400	9:26,978,237	A/C	—	uncertain significance
rs777718341	9:26,978,239	T/G	—	likely benign
rs370238286	9:26,978,256	C/T	—	conflicting classifications of pathogenicity
rs374010822	9:26,978,257	G/A	—	likely benign
rs2131525635	9:26,978,258	A/T	—	pathogenic
rs11555693	9:26,978,259	A/G	—	benign
rs2131525662	9:26,978,261	G/A	—	pathogenic
rs201953338	9:26,978,262	G/C	—	likely pathogenic
rs1827214857	9:26,978,267	T/C	—	uncertain significance
rs2489312604	9:26,978,270	T/G	—	likely benign
rs2489312625	9:26,978,278	A/G	—	likely benign
rs763531575	9:26,978,281	T/A	—	likely benign
rs10812506	9:26,978,550	T/C	—	benign
rs10967638	9:26,980,413	A/G	—	benign
rs745628423	9:26,980,561	T/C	—	likely benign
rs114417039	9:26,980,566	T/C	—	benign
rs775155083	9:26,980,571	C/T	—	uncertain significance
rs1285117280	9:26,980,574	C/A	—	uncertain significance
rs2489317554	9:26,980,593	A/T	—	uncertain significance
rs2489317568	9:26,980,595	T/C	—	uncertain significance
rs768145788	9:26,980,612	T/G	—	likely benign
rs760997513	9:26,980,615	T/A	—	benign
rs761465255	9:26,980,616	A/C	—	uncertain significance
rs766986213	9:26,980,618	G/A	—	likely pathogenic
rs759348536	9:26,980,628	C/T	—	likely benign
rs765552284	9:26,980,629	A/G	—	likely benign
rs72703103	9:26,980,879	C/T	—	benign
rs2131540908	9:26,984,231	A/G	—	pathogenic
rs2131540949	9:26,984,250	A/G	—	likely benign
rs1019047781	9:26,984,252	T/C	—	uncertain significance
rs2489325501	9:26,984,253	A/G	—	likely pathogenic
rs551801376	9:26,984,275	C/A	—	uncertain significance
rs12004404	9:26,984,277	A/G	—	benign
rs1394892169	9:26,984,279	T/A	—	likely benign
rs1458315887	9:26,984,303	A/T	—	likely benign
rs1391036863	9:26,984,307	G/T	—	pathogenic
rs185119188	9:26,984,309	A/G	—	benign
rs774514441	9:26,984,317	A/G	—	uncertain significance
rs1337376082	9:26,984,321	A/G	—	likely benign
rs202120896	9:26,984,324	G/A	—	benign

Showing 100 of 436 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.