STIL

STIL centriolar assembly protein

Summary

This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants328 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs148103615	1:47,715,816	T/C	—	uncertain significance
rs886046388	1:47,715,830	A/G	—	uncertain significance
rs762273630	1:47,715,923	G/A	—	uncertain significance
rs181941312	1:47,715,925	T/C	—	uncertain significance
rs184977531	1:47,716,078	T/C	—	likely benign
rs886046389	1:47,716,209	T/C	—	uncertain significance
rs11211487	1:47,716,231	C/T	—	benign
rs181264069	1:47,716,263	G/A	—	uncertain significance
rs11211488	1:47,716,492	A/G	—	benign
rs765271015	1:47,716,556	T/C	—	uncertain significance
rs564629203	1:47,716,605	G/A	—	uncertain significance
rs747809307	1:47,716,806	G/A	—	uncertain significance
rs372680224	1:47,716,836	C/T	—	conflicting classifications of pathogenicity
rs199634446	1:47,716,837	G/A	—	conflicting classifications of pathogenicity
rs2148617096	1:47,716,839	T/C	—	uncertain significance
rs146387723	1:47,716,889	T/C	—	likely benign
rs142210835	1:47,716,921	T/C	—	uncertain significance
rs1390893324	1:47,716,923	G/A	—	uncertain significance
rs1406402597	1:47,716,925	A/T	—	likely benign
rs121918609	1:47,716,957	G/A	stop gained	pathogenic
rs398123691	1:47,716,961	G/A	—	uncertain significance
rs763127279	1:47,716,976	G/A	—	conflicting classifications of pathogenicity
rs148592489	1:47,716,980	C/T	—	uncertain significance
rs199422207	1:47,717,017	—	—	pathogenic
rs2521942538	1:47,717,035	C/T	—	uncertain significance
rs2521945474	1:47,717,060	C/A	—	uncertain significance
rs144746030	1:47,717,094	G/A	—	conflicting classifications of pathogenicity
rs749339741	1:47,717,096	C/T	—	conflicting classifications of pathogenicity
rs369376550	1:47,717,101	C/T	—	uncertain significance
rs1644179901	1:47,717,112	C/A	—	uncertain significance
rs1353853447	1:47,717,129	A/G	—	likely benign
rs373488188	1:47,717,150	G/T	—	uncertain significance
rs550062989	1:47,717,160	G/A	—	likely benign
rs780930663	1:47,717,181	A/G	—	uncertain significance
rs1644182557	1:47,717,184	T/A	—	uncertain significance
rs2758735	1:47,717,189	A/G	—	benign
rs3766317	1:47,717,238	G/A	—	conflicting classifications of pathogenicity
rs1271368812	1:47,717,241	T/C	—	uncertain significance
rs112563569	1:47,717,245	C/T	—	benign
rs144628824	1:47,717,246	G/A	—	uncertain significance
rs759976756	1:47,717,277	C/T	—	uncertain significance
rs142315727	1:47,717,297	T/C	—	likely benign
rs1553167547	1:47,717,354	C/G	—	likely benign
rs997313040	1:47,717,359	C/T	—	uncertain significance
rs147478467	1:47,717,399	G/A	—	likely benign
rs2521988924	1:47,717,407	T/C	—	uncertain significance
rs190918041	1:47,717,418	G/A	—	uncertain significance
rs778016364	1:47,717,468	A/G	—	conflicting classifications of pathogenicity
rs143956189	1:47,717,505	T/C	—	uncertain significance
rs201354921	1:47,717,518	C/T	—	uncertain significance
rs113337758	1:47,717,519	G/A	—	conflicting classifications of pathogenicity
rs1001587988	1:47,717,524	T/G	—	uncertain significance
rs758472003	1:47,717,562	A/C	—	uncertain significance
rs1644194837	1:47,717,575	G/T	—	uncertain significance
rs1644195091	1:47,717,579	G/A	—	likely benign
rs140660812	1:47,722,376	C/T	—	—
rs764072167	1:47,725,952	A/G	—	likely benign
rs144586803	1:47,725,974	C/A	—	uncertain significance
rs199558457	1:47,725,980	G/A	—	conflicting classifications of pathogenicity
rs370465985	1:47,726,031	T/C	missense variant	uncertain significance
rs199422205	1:47,726,084	T/C	—	not provided
rs13376679	1:47,726,087	T/C	—	benign
rs587784450	1:47,726,090	G/A	—	uncertain significance
rs779266531	1:47,726,101	T/C	—	likely benign
rs78932355	1:47,726,103	T/C	—	uncertain significance
rs561250909	1:47,726,105	T/G	—	uncertain significance
rs759013025	1:47,726,123	C/T	—	uncertain significance
rs148193936	1:47,726,135	T/C	—	conflicting classifications of pathogenicity
rs774354721	1:47,726,161	C/T	—	likely benign
rs1644453843	1:47,726,178	T/C	—	uncertain significance
rs199422204	1:47,726,183	G/T	—	not provided
rs35447382	1:47,726,186	C/T	—	uncertain significance
rs766451599	1:47,726,194	T/C	—	uncertain significance
rs1064796510	1:47,726,213	T/C	—	pathogenic
rs765585891	1:47,726,230	A/T	—	likely benign
rs114760199	1:47,726,265	C/T	—	likely benign
rs148721559	1:47,726,307	A/C	—	benign
rs116435567	1:47,728,348	C/T	—	likely benign
rs55740910	1:47,728,459	A/G	—	likely benign
rs149535653	1:47,728,490	C/T	—	likely benign
rs199422206	1:47,728,574	C/T	—	pathogenic
rs1004635364	1:47,728,575	C/G	—	uncertain significance
rs763308359	1:47,728,609	G/C	—	uncertain significance
rs1282514737	1:47,728,611	T/C	—	likely benign
rs752089431	1:47,728,620	C/G	—	uncertain significance
rs368389123	1:47,728,627	T/G	—	uncertain significance
rs1644527858	1:47,728,635	A/T	—	uncertain significance
rs576766019	1:47,728,638	C/T	—	likely benign
rs758155704	1:47,728,649	G/A	—	uncertain significance
rs776674838	1:47,728,715	C/T	—	likely benign
rs745904390	1:47,728,717	C/A	—	uncertain significance
rs200995168	1:47,728,728	C/G	—	conflicting classifications of pathogenicity
rs1644531684	1:47,728,775	C/T	—	uncertain significance
rs371848845	1:47,728,803	T/C	—	likely benign
rs76286645	1:47,729,026	G/T	—	benign
rs2821092	1:47,729,034	T/A	—	likely benign
rs2742104	1:47,735,280	T/C	—	benign
rs201989960	1:47,735,328	T/G	—	likely benign
rs587784449	1:47,735,380	C/T	—	uncertain significance
rs569374620	1:47,735,431	T/C	—	uncertain significance

Showing 100 of 328 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.