IFT140

intraflagellar transport 140

Summary

This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]

Known Variants1,545 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs532233762	16:1,560,515	C/T	—	uncertain significance
rs192256907	16:1,560,516	G/A	—	likely benign
rs143732634	16:1,560,542	C/T	—	likely benign
rs886051705	16:1,560,667	G/T	—	uncertain significance
rs184405274	16:1,560,710	G/T	—	benign
rs886051706	16:1,560,719	A/C	—	uncertain significance
rs1192536789	16:1,560,738	G/A	—	uncertain significance
rs886051707	16:1,560,787	C/G	—	uncertain significance
rs760987640	16:1,560,792	G/A	—	uncertain significance
rs372303683	16:1,560,827	C/T	—	uncertain significance
rs2040116815	16:1,560,854	C/A	—	uncertain significance
rs149678731	16:1,560,882	T/C	—	likely benign
rs1053730	16:1,560,886	A/G	—	benign
rs761282751	16:1,560,899	A/C	—	uncertain significance
rs752974569	16:1,560,922	G/A	—	uncertain significance
rs144879630	16:1,560,943	C/T	—	likely benign
rs1299854506	16:1,560,946	C/T	—	likely benign
rs1198844614	16:1,560,949	G/A	—	uncertain significance
rs768372140	16:1,560,951	G/A	—	likely benign
rs201065562	16:1,560,953	C/T	—	conflicting classifications of pathogenicity
rs61749517	16:1,560,954	G/A	—	benign
rs771632573	16:1,560,955	T/C	—	conflicting classifications of pathogenicity
rs777181948	16:1,560,956	C/T	—	conflicting classifications of pathogenicity
rs769920958	16:1,560,959	C/A	—	uncertain significance
rs1386131080	16:1,560,968	C/T	—	uncertain significance
rs763213109	16:1,560,972	C/A	—	likely benign
rs2040122567	16:1,560,975	C/G	—	uncertain significance
rs142106374	16:1,560,980	C/T	—	conflicting classifications of pathogenicity
rs761585883	16:1,560,981	G/A	—	benign
rs750381445	16:1,560,984	C/T	—	conflicting classifications of pathogenicity
rs755962676	16:1,560,995	C/T	—	uncertain significance
rs779634878	16:1,560,996	G/A	—	likely benign
rs547804955	16:1,561,004	T/C	—	uncertain significance
rs2040124333	16:1,561,014	G/A	—	likely benign
rs34813273	16:1,561,015	C/T	—	likely benign
rs758535401	16:1,561,016	G/A	—	uncertain significance
rs201642067	16:1,561,025	C/T	—	conflicting classifications of pathogenicity
rs775680460	16:1,561,026	G/A	—	likely benign
rs2506016383	16:1,561,030	A/C	—	uncertain significance
rs145746065	16:1,561,031	C/T	—	conflicting classifications of pathogenicity
rs774573860	16:1,561,032	G/A	—	likely benign
rs761959670	16:1,561,034	T/C	—	uncertain significance
rs2506016447	16:1,561,035	G/C	—	likely benign
rs138420849	16:1,561,036	C/T	—	likely benign
rs141392067	16:1,561,037	G/A	—	conflicting classifications of pathogenicity
rs200161877	16:1,561,056	C/A	—	conflicting classifications of pathogenicity
rs886051708	16:1,561,057	C/T	—	uncertain significance
rs150276786	16:1,561,060	C/T	—	conflicting classifications of pathogenicity
rs138697817	16:1,561,061	G/A	—	uncertain significance
rs781658694	16:1,561,062	G/T	—	uncertain significance
rs2506016847	16:1,561,064	G/A	—	uncertain significance
rs756711276	16:1,561,067	C/T	—	uncertain significance
rs149359139	16:1,561,068	G/A	—	conflicting classifications of pathogenicity
rs144726977	16:1,561,070	C/T	—	conflicting classifications of pathogenicity
rs138436199	16:1,561,071	G/A	—	likely benign
rs200228341	16:1,561,074	C/G	—	likely benign
rs748389075	16:1,561,076	C/T	—	uncertain significance
rs535810761	16:1,561,077	G/A	—	conflicting classifications of pathogenicity
rs1489260377	16:1,561,080	C/T	—	likely benign
rs773095902	16:1,561,083	C/T	—	conflicting classifications of pathogenicity
rs555799779	16:1,561,084	G/A	—	conflicting classifications of pathogenicity
rs374429057	16:1,561,091	C/T	—	uncertain significance
rs1340703438	16:1,561,092	G/T	—	uncertain significance
rs1402963385	16:1,561,099	G/A	—	uncertain significance
rs2141089676	16:1,561,100	A/G	—	uncertain significance
rs752233693	16:1,561,102	A/G	—	uncertain significance
rs1482708228	16:1,561,103	T/G	—	uncertain significance
rs763649352	16:1,561,106	T/C	—	uncertain significance
rs143920103	16:1,561,107	G/C	—	likely benign
rs544908970	16:1,561,113	G/T	—	likely benign
rs2141089845	16:1,561,114	G/A	—	uncertain significance
rs558519810	16:1,561,120	C/T	—	conflicting classifications of pathogenicity
rs749827811	16:1,561,121	G/A	—	uncertain significance
rs755432238	16:1,561,123	C/T	—	likely benign
rs1465721813	16:1,561,124	G/A	—	uncertain significance
rs147396354	16:1,561,125	C/T	—	likely benign
rs113216558	16:1,561,126	C/T	—	conflicting classifications of pathogenicity
rs772400580	16:1,561,127	G/A	—	uncertain significance
rs202129528	16:1,561,129	A/G	—	conflicting classifications of pathogenicity
rs2506017535	16:1,561,130	T/C	—	uncertain significance
rs1567313285	16:1,561,131	C/T	—	likely benign
rs2040132121	16:1,561,133	C/G	—	uncertain significance
rs986247813	16:1,561,134	C/T	—	likely benign
rs559371453	16:1,561,138	A/G	missense variant	pathogenic
rs910636195	16:1,561,139	G/A	—	likely benign
rs770636131	16:1,561,144	C/T	—	conflicting classifications of pathogenicity
rs2040132765	16:1,561,147	T/C	—	uncertain significance
rs1461505278	16:1,561,157	G/A	—	likely benign
rs2141090224	16:1,561,160	G/C	—	uncertain significance
rs776525322	16:1,561,162	G/A	—	likely benign
rs1486803523	16:1,561,163	G/A	—	likely benign
rs936709914	16:1,561,165	G/T	—	likely benign
rs759566930	16:1,561,167	A/C	—	likely benign
rs765237247	16:1,561,170	C/T	—	likely benign
rs371461352	16:1,561,171	A/G	—	likely benign
rs67356424	16:1,561,323	G/A	—	benign
rs67551650	16:1,561,339	C/A	—	benign
rs35773761	16:1,563,865	G/A	downstream gene variant	—
rs528592543	16:1,564,256	A/G	—	—
rs2506047116	16:1,565,621	C/T	—	likely benign

Showing 100 of 1,545 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.