CEP89

centrosomal protein 89

Summary

Involved in mitochondrial cytochrome c oxidase assembly and non-motile cilium assembly. Acts upstream of or within cilium assembly. Located in several cellular components, including microtubule cytoskeleton; mitochondrial intermembrane space; and nuclear body. Part of ciliary transition fiber. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants222 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs780316076	19:33,370,069	T/A	—	uncertain significance
rs745961	19:33,370,070	A/G	—	benign
rs1213456682	19:33,370,081	G/T	—	uncertain significance
rs745960	19:33,370,084	T/A	—	benign
rs2513628494	19:33,370,091	T/G	—	uncertain significance
rs202084887	19:33,370,099	T/C	—	uncertain significance
rs929169627	19:33,370,102	G/A	—	uncertain significance
rs773981059	19:33,370,110	A/G	—	likely benign
rs1427615216	19:33,370,112	C/T	—	uncertain significance
rs1442998111	19:33,370,118	C/T	—	uncertain significance
rs201311820	19:33,370,119	G/A	—	likely benign
rs1599701791	19:33,370,134	C/G	—	uncertain significance
rs537113854	19:33,370,142	C/T	—	uncertain significance
rs113325124	19:33,370,143	G/A	—	likely benign
rs745959	19:33,370,161	A/C	—	benign
rs908409519	19:33,370,183	T/A	—	uncertain significance
rs1410780279	19:33,370,188	G/A	—	likely benign
rs769271748	19:33,370,198	G/A	—	uncertain significance
rs146991222	19:33,370,223	G/A	—	uncertain significance
rs758657889	19:33,370,231	C/T	—	uncertain significance
rs1049468213	19:33,370,250	A/G	—	uncertain significance
rs369134263	19:33,372,736	G/T	—	likely benign
rs201895689	19:33,372,738	C/T	—	likely benign
rs771781611	19:33,372,760	G/T	—	uncertain significance
rs533496556	19:33,372,764	C/T	—	likely benign
rs145013119	19:33,372,765	G/A	—	uncertain significance
rs768641193	19:33,372,813	C/T	—	uncertain significance
rs34626245	19:33,372,814	A/G	—	benign
rs1197595061	19:33,372,824	C/A	—	likely benign
rs750847644	19:33,372,825	C/T	—	uncertain significance
rs370350519	19:33,372,826	G/A	—	uncertain significance
rs200051100	19:33,372,827	G/C	—	uncertain significance
rs2513632133	19:33,372,832	G/A	—	uncertain significance
rs777561706	19:33,372,844	C/G	—	uncertain significance
rs201150324	19:33,372,845	G/A	—	likely benign
rs770609431	19:33,372,847	C/T	—	uncertain significance
rs45470694	19:33,372,856	C/G	—	uncertain significance
rs181626301	19:33,372,873	C/T	—	uncertain significance
rs772350734	19:33,372,874	G/A	—	uncertain significance
rs148100883	19:33,372,892	G/A	—	likely benign
rs1051318623	19:33,372,918	C/T	—	uncertain significance
rs1305437815	19:33,372,926	G/A	—	likely benign
rs377179055	19:33,372,929	G/A	—	benign
rs2513640254	19:33,378,653	C/T	—	uncertain significance
rs1356098813	19:33,378,661	G/T	—	likely benign
rs142812224	19:33,378,696	T/C	—	conflicting classifications of pathogenicity
rs1257788172	19:33,378,706	T/C	—	likely benign
rs1969432536	19:33,378,754	A/G	—	likely benign
rs769164436	19:33,390,754	G/A	—	likely benign
rs147974740	19:33,390,782	C/T	—	uncertain significance
rs773793137	19:33,390,783	G/A	—	uncertain significance
rs761384121	19:33,390,785	T/C	—	uncertain significance
rs767119647	19:33,390,791	G/A	—	uncertain significance
rs10418340	19:33,390,796	G/A	—	benign
rs1304693842	19:33,390,809	C/A	—	uncertain significance
rs200442281	19:33,390,814	A/T	—	likely benign
rs753568653	19:33,390,822	C/T	—	uncertain significance
rs1969728752	19:33,390,837	C/G	—	uncertain significance
rs367929049	19:33,390,847	G/A	—	likely benign
rs371398482	19:33,390,864	C/A	—	uncertain significance
rs2513656144	19:33,390,917	C/T	—	uncertain significance
rs368957729	19:33,390,922	A/G	—	likely benign
rs188560001	19:33,390,924	G/A	—	benign
rs187153462	19:33,392,145	A/T	—	likely benign
rs772833328	19:33,392,151	C/T	—	uncertain significance
rs925788806	19:33,392,176	G/C	—	uncertain significance
rs761903654	19:33,392,180	G/A	—	likely benign
rs377584191	19:33,392,184	T/G	—	uncertain significance
rs1969764719	19:33,392,201	C/T	—	likely benign
rs2145888528	19:33,392,213	G/C	—	uncertain significance
rs148506114	19:33,392,223	A/G	—	likely benign
rs775414751	19:33,392,231	G/C	—	uncertain significance
rs149603102	19:33,392,243	C/T	—	likely benign
rs200520144	19:33,392,244	G/A	—	likely benign
rs1037891082	19:33,392,277	T/C	—	uncertain significance
rs2513658369	19:33,392,283	T/C	—	uncertain significance
rs375529659	19:33,392,299	C/A	—	uncertain significance
rs2897034	19:33,398,577	T/G	—	—
rs757810796	19:33,406,233	A/C	—	likely benign
rs778868993	19:33,406,280	C/G	—	uncertain significance
rs773013555	19:33,406,283	C/T	—	uncertain significance
rs775600871	19:33,406,296	C/T	—	likely benign
rs764278381	19:33,406,297	G/A	—	conflicting classifications of pathogenicity
rs61745862	19:33,406,311	T/A	—	likely benign
rs112339858	19:33,406,327	C/T	—	benign
rs113919201	19:33,406,328	G/A	—	benign
rs748017973	19:33,406,346	C/T	—	uncertain significance
rs150139285	19:33,406,356	C/G	—	likely benign
rs775482666	19:33,406,372	T/A	—	uncertain significance
rs768932479	19:33,406,376	C/A	—	uncertain significance
rs376354209	19:33,406,377	G/A	—	likely benign
rs7246178	19:33,406,442	A/G	—	benign
rs2513684591	19:33,409,115	C/T	—	likely benign
rs766858182	19:33,409,141	C/T	—	conflicting classifications of pathogenicity
rs141289026	19:33,409,142	G/A	—	uncertain significance
rs544449039	19:33,409,151	G/T	—	uncertain significance
rs115250365	19:33,409,185	C/T	—	benign
rs182600896	19:33,409,243	C/T	—	conflicting classifications of pathogenicity
rs778046770	19:33,409,244	G/A	—	uncertain significance
rs186827991	19:33,409,263	G/A	—	benign

Showing 100 of 222 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.