IFT172

intraflagellar transport 172

Summary

This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]

Known Variants1,343 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10208616	2:27,667,108	G/A	—	likely benign
rs62131871	2:27,667,184	A/G	—	benign
rs4803	2:27,667,297	A/G	—	benign
rs2148462534	2:27,667,304	G/C	—	uncertain significance
rs953161312	2:27,667,313	A/G	—	uncertain significance
rs375519807	2:27,667,320	G/T	—	uncertain significance
rs2148462622	2:27,667,321	C/G	—	uncertain significance
rs1664849569	2:27,667,337	A/C	—	uncertain significance
rs1238875084	2:27,667,345	C/T	—	uncertain significance
rs985755052	2:27,667,361	C/T	—	uncertain significance
rs143671920	2:27,667,362	G/A	—	likely benign
rs753075654	2:27,667,367	G/T	—	uncertain significance
rs149614625	2:27,667,370	A/G	missense variant	pathogenic
rs148800421	2:27,667,379	T/G	—	uncertain significance
rs1259207198	2:27,667,393	G/C	—	conflicting classifications of pathogenicity
rs368863616	2:27,667,400	T/C	—	likely benign
rs372154058	2:27,667,408	C/T	—	likely benign
rs369150915	2:27,667,865	A/C	—	likely benign
rs889302546	2:27,667,866	G/A	—	likely benign
rs2465782897	2:27,667,867	T/C	—	likely benign
rs1185416215	2:27,667,868	C/T	—	likely benign
rs2148464534	2:27,667,875	T/C	—	uncertain significance
rs1664926036	2:27,667,876	C/T	—	uncertain significance
rs755256585	2:27,667,882	T/C	—	uncertain significance
rs749020649	2:27,667,887	G/A	—	likely benign
rs146309780	2:27,667,892	T/G	—	uncertain significance
rs777579270	2:27,667,899	T/C	—	likely benign
rs770335799	2:27,667,904	T/C	—	uncertain significance
rs542662514	2:27,667,913	C/T	—	uncertain significance
rs868748622	2:27,667,917	G/T	—	likely benign
rs1220735933	2:27,667,921	G/A	—	uncertain significance
rs375081229	2:27,667,925	C/T	—	uncertain significance
rs2148464737	2:27,667,935	C/T	—	likely benign
rs775719395	2:27,667,936	C/T	—	uncertain significance
rs560831644	2:27,667,937	G/A	—	conflicting classifications of pathogenicity
rs762114339	2:27,667,948	A/G	—	uncertain significance
rs2465783561	2:27,667,959	C/G	—	likely benign
rs765709301	2:27,667,961	G/C	—	uncertain significance
rs2148464837	2:27,667,974	T/C	—	likely pathogenic
rs370108416	2:27,667,975	G/A	—	conflicting classifications of pathogenicity
rs373421077	2:27,667,992	G/T	—	likely benign
rs2465785033	2:27,668,149	G/A	—	likely benign
rs1664957671	2:27,668,160	T/C	—	uncertain significance
rs200049734	2:27,668,163	C/G	—	uncertain significance
rs917873749	2:27,668,172	G/A	—	uncertain significance
rs775285304	2:27,668,178	G/A	—	uncertain significance
rs1350772419	2:27,668,181	G/A	—	likely benign
rs1285975087	2:27,668,182	G/C	—	likely benign
rs773691500	2:27,668,186	C/T	—	uncertain significance
rs1329856696	2:27,668,187	G/A	—	pathogenic
rs763335302	2:27,668,190	C/T	—	uncertain significance
rs2148465499	2:27,668,195	G/C	—	uncertain significance
rs972056548	2:27,668,198	C/T	—	uncertain significance
rs1435865869	2:27,668,200	C/T	—	likely benign
rs766918099	2:27,668,202	C/A	—	uncertain significance
rs774361785	2:27,668,207	A/G	—	uncertain significance
rs767672341	2:27,668,213	G/A	—	uncertain significance
rs2148465580	2:27,668,216	G/C	—	uncertain significance
rs1459018703	2:27,668,221	G/A	—	likely benign
rs146575848	2:27,668,226	C/T	—	uncertain significance
rs201017771	2:27,668,231	C/T	—	uncertain significance
rs757212554	2:27,668,232	G/A	—	uncertain significance
rs2148465651	2:27,668,233	C/A	—	uncertain significance
rs1664968356	2:27,668,234	T/C	—	uncertain significance
rs373098915	2:27,668,235	C/T	—	uncertain significance
rs749884570	2:27,668,240	C/T	—	uncertain significance
rs139348179	2:27,668,241	G/A	—	benign
rs1357445568	2:27,668,243	G/A	—	uncertain significance
rs779670290	2:27,668,250	C/T	—	uncertain significance
rs1488810130	2:27,668,256	C/G	—	uncertain significance
rs766353582	2:27,668,261	C/T	—	uncertain significance
rs1664975368	2:27,668,265	G/A	—	pathogenic
rs1320001121	2:27,668,267	T/C	—	uncertain significance
rs529850410	2:27,668,271	T/C	—	conflicting classifications of pathogenicity
rs1238278691	2:27,668,281	A/C	—	conflicting classifications of pathogenicity
rs1664978966	2:27,668,287	C/G	—	uncertain significance
rs2465786293	2:27,668,290	G/C	—	uncertain significance
rs549415233	2:27,668,294	C/T	—	uncertain significance
rs760097703	2:27,668,295	G/A	—	pathogenic
rs753562959	2:27,668,297	A/G	—	uncertain significance
rs149117098	2:27,668,298	C/T	—	likely benign
rs2465786468	2:27,668,306	C/G	—	uncertain significance
rs370504937	2:27,668,310	C/T	—	uncertain significance
rs764401765	2:27,668,321	A/C	—	likely benign
rs377667733	2:27,668,332	A/T	—	likely benign
rs1431263019	2:27,668,333	G/A	—	likely benign
rs2465789132	2:27,668,592	T/C	—	likely benign
rs867633277	2:27,668,599	C/A	—	likely benign
rs772688143	2:27,668,605	C/T	—	likely benign
rs1436511287	2:27,668,611	C/T	—	likely pathogenic
rs374531022	2:27,668,612	C/T	—	uncertain significance
rs550224307	2:27,668,613	G/A	—	uncertain significance
rs866404849	2:27,668,614	G/A	—	uncertain significance
rs571686284	2:27,668,617	C/T	—	conflicting classifications of pathogenicity
rs201840472	2:27,668,618	A/C	—	conflicting classifications of pathogenicity
rs2465789463	2:27,668,624	C/T	—	likely benign
rs1237678953	2:27,668,633	G/T	—	likely benign
rs757813720	2:27,668,635	G/A	—	uncertain significance
rs773180868	2:27,668,648	G/A	—	likely benign
rs2465789708	2:27,668,652	A/C	—	uncertain significance

Showing 100 of 1,343 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.