CKAP2L

cytoskeleton associated protein 2 like

Summary

The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Known Variants162 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1052529	2:113,496,131	A/T	—	benign
rs769619426	2:113,496,440	G/A	—	uncertain significance
rs35691553	2:113,496,452	C/T	—	benign
rs76036957	2:113,496,453	G/A	—	benign
rs138357559	2:113,496,465	A/T	—	uncertain significance
rs1357746442	2:113,496,519	G/T	—	uncertain significance
rs3811039	2:113,496,520	T/A	—	benign
rs759040662	2:113,496,522	C/G	—	uncertain significance
rs1679623183	2:113,496,527	A/G	—	uncertain significance
rs2467013048	2:113,496,547	C/T	—	likely benign
rs116342308	2:113,496,554	C/T	—	benign
rs376164527	2:113,496,566	G/A	—	uncertain significance
rs370543344	2:113,496,568	C/T	—	likely benign
rs201984824	2:113,496,572	C/T	—	pathogenic
rs750251080	2:113,496,575	C/T	—	uncertain significance
rs56756055	2:113,496,580	A/G	—	benign
rs2467013755	2:113,496,585	T/C	—	uncertain significance
rs755625375	2:113,496,611	G/A	—	uncertain significance
rs142117171	2:113,496,632	G/T	—	benign
rs151168935	2:113,496,954	T/A	—	benign
rs17042317	2:113,498,337	C/T	—	benign
rs763625186	2:113,498,383	G/A	—	likely benign
rs753333699	2:113,498,399	G/A	—	uncertain significance
rs764833990	2:113,498,431	T/A	—	uncertain significance
rs537202818	2:113,498,464	G/A	—	uncertain significance
rs754912723	2:113,498,466	C/T	—	likely benign
rs1301846549	2:113,498,494	G/A	—	uncertain significance
rs2467029773	2:113,498,512	G/A	—	uncertain significance
rs1574317793	2:113,498,534	C/T	—	uncertain significance
rs2467029978	2:113,498,543	A/G	—	uncertain significance
rs761163846	2:113,498,553	A/G	—	likely benign
rs3811040	2:113,498,566	A/G	—	benign
rs2467030217	2:113,498,567	A/C	—	uncertain significance
rs766132076	2:113,498,568	A/G	—	likely benign
rs910339737	2:113,498,592	T/G	—	likely benign
rs60396978	2:113,498,630	T/C	—	benign
rs3827761	2:113,498,754	G/A	—	benign
rs1680053234	2:113,500,282	C/T	—	pathogenic
rs369349558	2:113,500,308	C/A	—	uncertain significance
rs138538433	2:113,500,320	A/G	—	likely benign
rs72950400	2:113,500,570	G/T	—	benign
rs72950402	2:113,500,605	A/G	—	benign
rs73955274	2:113,503,678	A/G	—	benign
rs6542088	2:113,503,830	C/T	—	benign
rs2104868175	2:113,503,979	C/A	—	likely benign
rs1680202951	2:113,504,014	T/C	—	uncertain significance
rs1680203848	2:113,504,043	A/G	—	uncertain significance
rs1485591245	2:113,504,056	T/G	—	uncertain significance
rs944975061	2:113,504,090	A/G	—	likely benign
rs750566749	2:113,504,134	T/C	—	uncertain significance
rs766585648	2:113,504,151	C/T	—	conflicting classifications of pathogenicity
rs2467046902	2:113,504,170	A/G	—	likely benign
rs201606987	2:113,504,172	C/T	—	likely benign
rs1680392312	2:113,509,828	T/C	—	likely benign
rs759793090	2:113,509,849	C/T	—	uncertain significance
rs1574331686	2:113,509,861	G/A	—	likely benign
rs372343930	2:113,509,879	T/C	—	uncertain significance
rs36046436	2:113,509,891	T/C	—	benign
rs566640864	2:113,509,896	A/G	—	uncertain significance
rs761038617	2:113,509,968	A/G	—	uncertain significance
rs1349477104	2:113,509,996	T/C	—	uncertain significance
rs55681502	2:113,510,000	A/G	—	benign
rs765968211	2:113,510,004	C/T	—	uncertain significance
rs367788804	2:113,510,008	T/C	—	uncertain significance
rs140813167	2:113,510,045	T/C	—	likely benign
rs371614737	2:113,510,047	G/C	—	uncertain significance
rs17042330	2:113,510,233	C/T	—	benign
rs4848298	2:113,513,504	A/G	—	benign
rs755770296	2:113,513,551	T/C	—	uncertain significance
rs748992677	2:113,513,563	T/A	—	uncertain significance
rs778986322	2:113,513,584	A/G	—	uncertain significance
rs201537641	2:113,513,613	G/A	—	likely benign
rs762202417	2:113,513,615	T/C	—	uncertain significance
rs760261986	2:113,513,648	T/G	—	uncertain significance
rs2104882889	2:113,513,657	A/C	—	uncertain significance
rs1481703640	2:113,513,660	G/T	—	uncertain significance
rs538466607	2:113,513,665	T/C	—	uncertain significance
rs753540346	2:113,513,672	C/T	—	uncertain significance
rs371790219	2:113,513,686	T/C	—	uncertain significance
rs892643127	2:113,513,693	C/A	—	uncertain significance
rs2467066551	2:113,513,701	T/G	—	uncertain significance
rs141509802	2:113,513,738	T/C	—	likely benign
rs1389406748	2:113,513,753	T/C	—	uncertain significance
rs772245567	2:113,513,762	T/C	—	conflicting classifications of pathogenicity
rs1680527053	2:113,513,767	G/C	—	uncertain significance
rs563147561	2:113,513,785	G/A	—	uncertain significance
rs2467067110	2:113,513,791	A/T	—	uncertain significance
rs146060251	2:113,513,797	C/G	—	uncertain significance
rs2712025	2:113,513,814	C/T	—	benign
rs6731822	2:113,513,825	T/C	—	benign
rs368816004	2:113,513,839	T/C	—	uncertain significance
rs766256804	2:113,513,846	C/T	—	likely benign
rs551009951	2:113,513,908	C/T	—	uncertain significance
rs764989782	2:113,513,924	C/T	—	uncertain significance
rs375043973	2:113,513,943	T/G	—	likely benign
rs757551001	2:113,513,988	T/C	—	likely benign
rs200765044	2:113,513,993	G/A	—	uncertain significance
rs34358218	2:113,514,026	T/C	—	likely benign
rs772047220	2:113,514,032	T/A	—	uncertain significance
rs2104883971	2:113,514,041	T/C	—	uncertain significance

Showing 100 of 162 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.