CEP104

centrosomal protein 104

Summary

This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]

Known Variants406 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs34060840	1:3,731,657	C/T	—	benign
rs929850398	1:3,731,826	C/T	—	likely benign
rs12729542	1:3,731,959	C/T	—	benign
rs12728401	1:3,731,965	G/A	—	benign
rs2525304833	1:3,731,969	G/A	—	likely benign
rs750794560	1:3,731,978	G/A	—	likely benign
rs2124628629	1:3,731,979	T/A	—	uncertain significance
rs754388554	1:3,731,982	G/A	—	uncertain significance
rs755406055	1:3,731,989	T/C	—	conflicting classifications of pathogenicity
rs538187962	1:3,731,993	G/A	—	likely benign
rs771769043	1:3,731,995	T/C	—	uncertain significance
rs201733773	1:3,732,007	C/T	—	uncertain significance
rs148360595	1:3,732,008	G/A	—	likely benign
rs200742076	1:3,732,014	C/T	—	likely benign
rs200182606	1:3,732,015	G/A	—	uncertain significance
rs767762091	1:3,732,035	G/A	—	likely benign
rs369737290	1:3,732,041	T/C	—	likely benign
rs754145994	1:3,732,060	G/T	—	uncertain significance
rs372708011	1:3,732,061	C/T	—	uncertain significance
rs746706047	1:3,732,070	C/T	—	uncertain significance
rs4648409	1:3,732,103	T/C	—	benign
rs4233019	1:3,732,172	C/T	—	benign
rs117132607	1:3,732,195	C/T	—	likely benign
rs6662706	1:3,732,596	G/T	—	benign
rs6702916	1:3,732,639	T/A	—	benign
rs6702935	1:3,732,707	C/T	—	benign
rs113757675	1:3,732,712	A/G	—	likely benign
rs34049022	1:3,732,729	A/G	—	likely benign
rs6703035	1:3,732,782	T/C	—	benign
rs369179178	1:3,732,831	C/T	—	likely benign
rs745711038	1:3,732,832	G/A	—	likely benign
rs552644535	1:3,732,834	T/A	—	conflicting classifications of pathogenicity
rs202022682	1:3,732,848	C/T	—	likely benign
rs747029336	1:3,732,857	C/T	—	likely benign
rs185664269	1:3,732,862	C/A	—	conflicting classifications of pathogenicity
rs139076247	1:3,732,885	C/T	—	conflicting classifications of pathogenicity
rs759967359	1:3,732,896	C/T	—	likely benign
rs376684648	1:3,732,897	G/A	—	uncertain significance
rs1329373364	1:3,732,904	C/T	—	uncertain significance
rs775891204	1:3,732,905	G/A	—	likely benign
rs869025278	1:3,732,936	T/C	—	pathogenic
rs74049752	1:3,732,970	C/T	—	likely benign
rs188855232	1:3,732,980	C/T	—	likely benign
rs11809965	1:3,733,161	C/G	—	benign
rs79287741	1:3,733,217	C/A	—	benign
rs2027548	1:3,739,512	G/A	—	benign
rs59648769	1:3,739,611	C/A	—	benign
rs186669023	1:3,739,664	C/T	—	likely benign
rs373332298	1:3,739,732	C/T	—	uncertain significance
rs2525351237	1:3,739,735	C/T	—	uncertain significance
rs111626991	1:3,739,740	C/T	—	likely benign
rs148840465	1:3,739,745	C/T	—	likely benign
rs1209375429	1:3,739,771	G/A	—	likely benign
rs578262183	1:3,739,795	C/T	—	likely benign
rs754724148	1:3,739,796	G/A	—	uncertain significance
rs781194041	1:3,739,819	A/T	—	benign
rs1644018853	1:3,739,971	T/C	—	likely benign
rs756171105	1:3,739,987	C/T	—	conflicting classifications of pathogenicity
rs2525353698	1:3,740,031	G/A	—	likely benign
rs759250010	1:3,740,044	C/A	—	uncertain significance
rs367663524	1:3,740,050	C/T	—	uncertain significance
rs78228821	1:3,740,052	G/A	—	likely benign
rs148877817	1:3,740,068	C/T	—	conflicting classifications of pathogenicity
rs776174886	1:3,740,110	C/T	—	uncertain significance
rs571204315	1:3,740,144	G/C	—	likely benign
rs12084439	1:3,740,234	G/A	—	benign
rs2275836	1:3,740,270	G/A	—	benign
rs543238063	1:3,740,412	A/G	—	likely benign
rs79797528	1:3,740,426	T/C	—	benign
rs16824124	1:3,741,985	T/C	—	benign
rs9424290	1:3,742,009	C/T	—	benign
rs9424309	1:3,742,103	C/T	—	benign
rs7530291	1:3,742,179	G/A	—	benign
rs12759497	1:3,742,257	C/T	—	benign
rs749038815	1:3,742,342	T/G	—	likely benign
rs2525371006	1:3,742,361	C/T	—	likely benign
rs537512159	1:3,742,404	C/T	—	uncertain significance
rs28617584	1:3,742,498	C/T	—	likely benign
rs2275835	1:3,742,560	G/A	—	benign
rs140847871	1:3,742,924	C/T	—	benign
rs377689419	1:3,742,926	C/T	—	likely benign
rs533659013	1:3,742,943	T/G	—	conflicting classifications of pathogenicity
rs201407033	1:3,742,955	G/A	—	likely benign
rs2124648975	1:3,742,956	G/A	—	uncertain significance
rs2124649026	1:3,742,975	A/G	—	likely benign
rs570483437	1:3,742,993	T/C	—	likely benign
rs2275834	1:3,743,109	A/G	—	benign
rs4648344	1:3,743,132	T/C	—	benign
rs4648345	1:3,743,151	G/A	—	benign
rs114208229	1:3,743,186	C/T	—	benign
rs773575374	1:3,743,277	T/C	—	uncertain significance
rs144805659	1:3,743,278	T/C	—	conflicting classifications of pathogenicity
rs1570784091	1:3,743,281	T/C	—	uncertain significance
rs754348247	1:3,743,300	T/C	—	likely benign
rs6663840	1:3,743,319	G/A	—	benign
rs58111155	1:3,743,350	G/C	—	benign
rs6688969	1:3,743,391	T/C	—	benign
rs113050588	1:3,743,586	G/A	—	likely benign
rs6670916	1:3,745,557	G/T	—	benign
rs2275833	1:3,745,721	C/T	—	benign

Showing 100 of 406 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.