IFT88

intraflagellar transport 88

Summary

This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017]

Known Variants370 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9552244	13:21,141,822	G/A	—	benign
rs1195334225	13:21,142,116	A/G	—	uncertain significance
rs374667274	13:21,142,131	A/G	—	uncertain significance
rs2547803243	13:21,142,134	A/G	—	uncertain significance
rs377387784	13:21,142,141	C/T	—	likely benign
rs368836743	13:21,142,146	G/A	—	likely benign
rs2547861550	13:21,148,507	A/G	—	uncertain significance
rs776432361	13:21,148,508	G/A	—	uncertain significance
rs191277814	13:21,148,525	A/G	—	uncertain significance
rs981925929	13:21,148,542	C/G	—	uncertain significance
rs200359008	13:21,148,549	C/T	—	uncertain significance
rs560202607	13:21,148,578	C/T	—	likely benign
rs1305204436	13:21,148,590	C/T	—	likely benign
rs2547862497	13:21,148,592	A/G	—	uncertain significance
rs1228511905	13:21,148,595	A/G	—	uncertain significance
rs1266505304	13:21,148,598	C/T	—	uncertain significance
rs2547862677	13:21,148,603	T/G	—	uncertain significance
rs750818479	13:21,148,604	A/C	—	uncertain significance
rs201009750	13:21,148,610	T/C	—	likely benign
rs770914774	13:21,148,611	C/T	—	likely benign
rs754431917	13:21,148,612	G/A	—	uncertain significance
rs369444272	13:21,157,082	C/T	—	likely benign
rs750047559	13:21,157,083	G/A	—	likely benign
rs773946920	13:21,157,096	G/A	—	uncertain significance
rs138599693	13:21,157,097	A/T	—	uncertain significance
rs2547942535	13:21,157,115	C/G	—	uncertain significance
rs766887846	13:21,157,129	G/A	—	uncertain significance
rs2547942758	13:21,157,139	G/T	—	uncertain significance
rs1566073024	13:21,157,140	T/G	—	uncertain significance
rs2038991074	13:21,157,171	A/C	—	likely benign
rs182235609	13:21,157,172	A/T	—	likely benign
rs549821423	13:21,157,173	T/A	—	likely benign
rs759751357	13:21,163,941	C/T	—	likely benign
rs375571364	13:21,163,972	C/T	—	uncertain significance
rs1261332821	13:21,163,973	G/A	—	likely benign
rs2548019412	13:21,163,990	T/C	—	uncertain significance
rs2548019455	13:21,163,993	C/G	—	uncertain significance
rs933345858	13:21,164,002	A/T	—	uncertain significance
rs145344536	13:21,164,006	G/A	—	uncertain significance
rs749125498	13:21,164,023	T/C	—	likely benign
rs376750493	13:21,165,101	A/G	—	likely benign
rs1452960490	13:21,165,110	A/C	—	uncertain significance
rs935172901	13:21,165,113	C/T	—	uncertain significance
rs138056001	13:21,165,121	G/A	—	likely benign
rs1362158346	13:21,165,122	C/T	—	uncertain significance
rs767626107	13:21,165,130	A/G	—	uncertain significance
rs367548129	13:21,165,138	A/G	—	likely benign
rs149506260	13:21,165,139	C/T	—	benign
rs144166809	13:21,165,141	A/C	—	likely benign
rs201782733	13:21,165,142	A/G	—	uncertain significance
rs148678288	13:21,165,145	A/G	—	likely benign
rs2548030454	13:21,165,152	C/G	—	uncertain significance
rs780723603	13:21,165,154	A/G	—	uncertain significance
rs147702145	13:21,165,168	A/G	—	likely benign
rs2548030846	13:21,165,175	G/A	—	likely benign
rs1453400996	13:21,165,177	A/G	—	likely benign
rs2548038595	13:21,165,742	C/T	—	likely benign
rs369163238	13:21,165,748	T/C	—	likely benign
rs1237351608	13:21,165,750	T/C	—	uncertain significance
rs372975558	13:21,165,758	A/T	—	uncertain significance
rs2040704656	13:21,165,762	A/G	—	likely benign
rs375150650	13:21,165,775	A/G	—	uncertain significance
rs1209645668	13:21,165,797	G/A	—	uncertain significance
rs73431345	13:21,165,807	A/G	—	benign
rs1238009911	13:21,165,831	C/G	—	likely benign
rs2548039788	13:21,165,832	T/C	—	likely benign
rs759800940	13:21,165,835	C/G	—	likely benign
rs987900141	13:21,166,487	C/A	—	likely benign
rs9315740	13:21,166,491	C/T	—	benign
rs1415534619	13:21,166,493	T/C	—	likely benign
rs747457589	13:21,166,498	A/G	—	uncertain significance
rs771201386	13:21,166,499	G/T	—	uncertain significance
rs776831267	13:21,166,501	C/T	—	uncertain significance
rs759861534	13:21,166,505	G/C	—	uncertain significance
rs1360211182	13:21,166,518	C/T	—	uncertain significance
rs754654380	13:21,166,563	G/T	—	likely benign
rs2548091853	13:21,170,269	C/G	—	likely benign
rs199690786	13:21,170,270	C/T	—	likely benign
rs1289305235	13:21,170,271	T/G	—	likely benign
rs760624985	13:21,170,272	G/A	—	likely benign
rs766261365	13:21,170,275	T/C	—	likely benign
rs753347614	13:21,170,278	G/C	—	likely benign
rs1457732944	13:21,170,310	A/G	—	likely benign
rs1007504839	13:21,170,318	A/G	—	uncertain significance
rs757842223	13:21,170,325	A/G	—	likely benign
rs2041613676	13:21,170,334	G/A	—	likely benign
rs2548092763	13:21,170,350	A/G	—	uncertain significance
rs1458276396	13:21,170,369	A/C	—	uncertain significance
rs2548093192	13:21,170,383	A/C	—	uncertain significance
rs140323983	13:21,171,136	G/C	—	benign
rs749291190	13:21,171,138	A/G	—	likely benign
rs974890357	13:21,171,142	A/G	—	uncertain significance
rs372502516	13:21,171,156	C/G	—	likely benign
rs1330491870	13:21,171,177	A/C	—	likely benign
rs145475438	13:21,171,186	A/G	—	likely benign
rs772604977	13:21,171,208	C/T	—	uncertain significance
rs2548103099	13:21,171,215	A/G	—	uncertain significance
rs776380570	13:21,171,216	A/C	—	uncertain significance
rs1299266664	13:21,171,217	G/A	—	uncertain significance
rs111562097	13:21,171,272	T/C	—	likely benign

Showing 100 of 370 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.