CEP164

centrosomal protein 164

Summary

This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Known Variants1,103 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs569524985	11:117,199,546	G/A	—	—
rs11216358	11:117,204,688	G/A	downstream gene variant	—
rs57025779	11:117,208,438	G/A	—	—
rs573801	11:117,209,268	C/T	—	benign
rs765277720	11:117,209,312	C/T	—	conflicting classifications of pathogenicity
rs2540314686	11:117,209,314	A/G	—	likely benign
rs749869599	11:117,209,315	C/A	—	uncertain significance
rs2540314871	11:117,209,317	C/T	—	conflicting classifications of pathogenicity
rs1413886061	11:117,209,322	G/A	—	uncertain significance
rs2135058109	11:117,209,330	G/C	—	uncertain significance
rs387907309	11:117,209,334	A/C	missense variant	pathogenic
rs904086015	11:117,209,338	G/T	—	likely benign
rs773812190	11:117,209,347	A/T	—	uncertain significance
rs140963454	11:117,209,352	A/G	—	uncertain significance
rs770996340	11:117,209,355	A/C	—	uncertain significance
rs767865652	11:117,209,361	A/C	—	uncertain significance
rs2135058910	11:117,209,369	A/G	—	uncertain significance
rs1565416876	11:117,209,378	G/A	—	uncertain significance
rs565845914	11:117,209,381	C/A	—	uncertain significance
rs765062784	11:117,209,403	G/C	—	likely benign
rs1254810750	11:117,214,867	T/G	—	likely benign
rs772420324	11:117,214,898	C/G	—	likely benign
rs775902514	11:117,214,899	C/T	—	uncertain significance
rs760829793	11:117,214,900	G/T	—	uncertain significance
rs978689124	11:117,214,911	A/G	—	uncertain significance
rs1295536967	11:117,214,920	A/G	—	uncertain significance
rs2038553739	11:117,214,926	G/C	—	uncertain significance
rs762888111	11:117,214,928	A/G	—	likely benign
rs367761983	11:117,214,949	G/A	—	likely benign
rs767138852	11:117,214,950	C/T	—	pathogenic
rs752300360	11:117,214,951	G/A	—	uncertain significance
rs1227388521	11:117,214,953	G/C	—	uncertain significance
rs541149150	11:117,214,954	A/C	—	uncertain significance
rs1049220694	11:117,214,959	A/T	—	uncertain significance
rs144777570	11:117,214,961	C/T	—	likely benign
rs2540460692	11:117,214,964	G/C	—	likely benign
rs2038560708	11:117,214,970	A/G	—	likely benign
rs745920052	11:117,214,982	G/A	—	likely benign
rs138449146	11:117,214,989	C/G	—	uncertain significance
rs747188099	11:117,214,990	C/T	—	uncertain significance
rs2540461205	11:117,214,991	A/G	—	likely benign
rs2540461335	11:117,214,995	T/C	—	likely pathogenic
rs925803866	11:117,215,002	G/C	—	likely benign
rs1468150420	11:117,215,003	C/T	—	likely benign
rs773044820	11:117,215,004	A/G	—	likely benign
rs749099996	11:117,215,005	G/A	—	likely benign
rs116804346	11:117,215,006	G/T	—	benign
rs1423887740	11:117,215,008	G/T	—	conflicting classifications of pathogenicity
rs574862830	11:117,215,009	G/T	—	likely benign
rs374708089	11:117,215,012	C/T	—	likely benign
rs184566454	11:117,215,013	G/A	—	benign
rs1261744	11:117,218,460	T/C	intron variant	—
rs592828	11:117,219,305	G/C	intron variant	—
rs192489212	11:117,220,429	A/C	intron variant	—
rs745742553	11:117,222,496	C/A	—	uncertain significance
rs747800943	11:117,222,514	T/C	—	uncertain significance
rs2135443083	11:117,222,523	A/T	—	uncertain significance
rs775054558	11:117,222,525	A/G	—	uncertain significance
rs538937913	11:117,222,542	C/T	—	likely benign
rs2540654228	11:117,222,543	G/A	—	uncertain significance
rs2039670463	11:117,222,544	C/G	—	uncertain significance
rs149281923	11:117,222,548	C/T	—	likely benign
rs2540654534	11:117,222,552	C/T	—	pathogenic
rs1057521785	11:117,222,573	T/C	missense variant	pathogenic
rs767057543	11:117,222,578	C/T	—	likely benign
rs148916200	11:117,222,579	G/C	—	uncertain significance
rs2039675348	11:117,222,583	A/G	—	uncertain significance
rs368866122	11:117,222,586	A/G	—	uncertain significance
rs373403222	11:117,222,587	T/G	—	likely pathogenic
rs387907310	11:117,222,588	C/T	missense variant	pathogenic
rs778624233	11:117,222,589	G/A	—	uncertain significance
rs490262	11:117,222,592	G/A	—	benign
rs1030661803	11:117,222,593	C/T	—	likely benign
rs2540656406	11:117,222,625	C/T	—	uncertain significance
rs147988387	11:117,222,626	T/C	—	likely benign
rs568554283	11:117,222,644	G/A	—	likely benign
rs75301270	11:117,222,648	A/G	—	uncertain significance
rs77118839	11:117,222,649	A/G	—	uncertain significance
rs1443066781	11:117,222,650	A/G	—	likely benign
rs867484690	11:117,222,658	A/T	—	uncertain significance
rs1297196642	11:117,222,666	A/G	—	uncertain significance
rs756317239	11:117,222,676	A/G	—	uncertain significance
rs2135446465	11:117,222,679	A/G	—	uncertain significance
rs2135446492	11:117,222,681	A/G	—	uncertain significance
rs143659874	11:117,222,691	C/A	—	conflicting classifications of pathogenicity
rs375951540	11:117,222,692	C/G	—	likely benign
rs919243922	11:117,222,697	G/C	—	uncertain significance
rs1006672566	11:117,222,700	C/T	—	uncertain significance
rs773045906	11:117,222,701	G/A	—	likely benign
rs1230691362	11:117,222,709	G/A	—	uncertain significance
rs111820395	11:117,222,829	G/A	intron variant	—
rs17500548	11:117,232,391	A/G	—	benign
rs2305825	11:117,232,492	C/T	—	benign
rs201463212	11:117,232,533	A/G	—	likely benign
rs367677064	11:117,232,535	G/A	—	likely benign
rs2540930145	11:117,232,542	G/A	—	likely benign
rs2135687974	11:117,232,544	T/C	—	likely benign
rs2135688046	11:117,232,545	G/T	—	conflicting classifications of pathogenicity
rs1288421627	11:117,232,551	G/T	—	uncertain significance
rs61746874	11:117,232,552	C/G	—	benign

Showing 100 of 1,103 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.