CEP41

centrosomal protein 41

Summary

This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

Known Variants374 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1990790	7:130,033,630	C/T	—	benign
rs148856430	7:130,033,664	C/T	—	uncertain significance
rs527933839	7:130,033,738	A/G	—	uncertain significance
rs760160179	7:130,033,759	G/A	—	uncertain significance
rs552988501	7:130,033,824	C/T	—	uncertain significance
rs782719539	7:130,033,866	G/A	—	uncertain significance
rs965337048	7:130,033,963	G/A	—	uncertain significance
rs782085608	7:130,034,018	A/G	—	uncertain significance
rs886061986	7:130,034,073	G/C	—	uncertain significance
rs753024852	7:130,034,133	T/C	—	uncertain significance
rs117814753	7:130,034,137	C/T	—	benign
rs151309255	7:130,034,138	G/A	—	likely benign
rs1796601439	7:130,034,193	G/A	—	uncertain significance
rs1554413676	7:130,034,227	C/A	—	uncertain significance
rs886061987	7:130,034,268	A/G	—	uncertain significance
rs886061988	7:130,034,315	C/T	—	uncertain significance
rs782450438	7:130,034,341	C/T	—	uncertain significance
rs556578226	7:130,034,347	G/A	—	uncertain significance
rs535299613	7:130,034,367	C/T	—	uncertain significance
rs1554413758	7:130,034,389	G/C	—	uncertain significance
rs538898722	7:130,034,410	C/T	—	uncertain significance
rs114939029	7:130,034,418	A/G	—	likely benign
rs4728195	7:130,034,437	C/G	—	benign
rs544508687	7:130,034,488	G/C	—	uncertain significance
rs187549864	7:130,034,516	G/A	—	uncertain significance
rs7793239	7:130,034,695	C/T	—	benign
rs782719854	7:130,034,725	G/A	—	uncertain significance
rs781992723	7:130,034,767	T/C	—	uncertain significance
rs62471754	7:130,034,845	G/C	—	benign
rs187532705	7:130,034,876	G/A	—	benign
rs117071818	7:130,034,949	A/G	—	benign
rs138768326	7:130,034,967	C/A	—	benign
rs532169706	7:130,034,991	T/A	—	uncertain significance
rs576298616	7:130,035,024	T/A	—	uncertain significance
rs376434190	7:130,035,191	C/T	—	uncertain significance
rs149385617	7:130,035,225	A/G	—	benign
rs144534675	7:130,035,281	C/T	—	uncertain significance
rs112007936	7:130,035,458	C/T	—	uncertain significance
rs886061989	7:130,035,539	G/A	—	uncertain significance
rs929238589	7:130,035,635	A/G	—	uncertain significance
rs886061990	7:130,035,663	A/G	—	uncertain significance
rs886061991	7:130,035,688	T/C	—	uncertain significance
rs566129615	7:130,035,692	C/T	—	uncertain significance
rs147207980	7:130,035,836	C/T	—	likely benign
rs1288708394	7:130,035,883	T/C	—	uncertain significance
rs782016580	7:130,035,946	T/G	—	uncertain significance
rs782043938	7:130,035,951	T/C	—	uncertain significance
rs1796651983	7:130,036,007	G/A	—	uncertain significance
rs1342689782	7:130,036,023	C/T	—	uncertain significance
rs905679390	7:130,036,063	T/C	—	uncertain significance
rs886061992	7:130,036,127	G/A	—	uncertain significance
rs189091601	7:130,036,250	T/A	—	benign
rs528289176	7:130,036,251	A/T	—	likely benign
rs73152867	7:130,036,343	C/T	—	uncertain significance
rs886061993	7:130,036,346	T/C	—	uncertain significance
rs115431091	7:130,036,506	C/T	—	uncertain significance
rs574519929	7:130,036,536	A/G	—	uncertain significance
rs886061994	7:130,036,538	G/A	—	uncertain significance
rs886061995	7:130,036,573	G/A	—	uncertain significance
rs190709953	7:130,036,616	A/G	—	uncertain significance
rs180725211	7:130,036,621	T/C	—	uncertain significance
rs73152868	7:130,036,691	C/T	—	benign
rs538682192	7:130,036,751	C/T	—	uncertain significance
rs185337247	7:130,036,758	T/C	—	conflicting classifications of pathogenicity
rs17133175	7:130,036,801	G/A	—	benign
rs73152869	7:130,036,873	C/A	—	benign
rs782011799	7:130,036,959	T/C	—	uncertain significance
rs552499760	7:130,036,964	C/A	—	uncertain significance
rs1211217706	7:130,036,966	A/G	—	uncertain significance
rs187513408	7:130,037,086	C/T	—	uncertain significance
rs533265295	7:130,037,088	T/C	—	uncertain significance
rs554826749	7:130,037,153	A/G	—	uncertain significance
rs139085191	7:130,037,165	T/G	—	likely benign
rs777673385	7:130,037,194	T/G	—	uncertain significance
rs149912245	7:130,037,198	A/G	—	likely benign
rs73721889	7:130,037,220	G/A	—	likely benign
rs886061996	7:130,037,321	C/A	—	uncertain significance
rs781845516	7:130,037,347	A/C	—	uncertain significance
rs1380245671	7:130,037,380	C/T	—	uncertain significance
rs782742227	7:130,037,391	T/G	—	uncertain significance
rs781954428	7:130,037,396	T/C	—	likely benign
rs782132652	7:130,037,404	A/T	—	uncertain significance
rs376297063	7:130,037,448	T/C	—	uncertain significance
rs1554415397	7:130,037,527	C/A	—	uncertain significance
rs781848072	7:130,037,541	C/T	—	uncertain significance
rs574982700	7:130,037,676	T/G	—	uncertain significance
rs73152870	7:130,037,805	A/G	—	benign
rs782801860	7:130,037,851	C/T	—	uncertain significance
rs781930185	7:130,037,873	C/T	—	uncertain significance
rs1554415585	7:130,037,900	T/G	—	uncertain significance
rs145808545	7:130,037,927	T/C	—	uncertain significance
rs374833862	7:130,037,956	C/T	—	uncertain significance
rs782582354	7:130,037,985	C/T	—	uncertain significance
rs553917711	7:130,037,992	G/A	—	uncertain significance
rs782543502	7:130,038,027	C/T	—	uncertain significance
rs782649697	7:130,038,050	T/C	—	uncertain significance
rs146622910	7:130,038,052	C/T	—	uncertain significance
rs141441037	7:130,038,077	G/A	—	benign
rs781791465	7:130,038,118	T/C	—	uncertain significance
rs186685101	7:130,038,139	C/T	—	conflicting classifications of pathogenicity

Showing 100 of 374 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.