POC1A

POC1 centriolar protein A

Summary

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]

Known Variants157 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9857878	3:52,109,668	C/T	—	benign
rs731684	3:52,109,841	T/C	—	benign
rs1359953293	3:52,109,905	A/G	—	uncertain significance
rs765497481	3:52,109,957	C/T	—	likely benign
rs372088045	3:52,109,978	C/A	—	likely benign
rs56660645	3:52,111,521	G/A	intron variant	—
rs148804382	3:52,112,233	C/A	intron variant	—
rs2106973437	3:52,130,601	A/G	—	uncertain significance
rs570298576	3:52,130,624	C/T	—	likely benign
rs186299883	3:52,130,625	G/A	—	uncertain significance
rs35898691	3:52,130,666	C/A	—	benign
rs1372894315	3:52,130,675	C/T	—	likely benign
rs769973716	3:52,130,704	G/C	—	uncertain significance
rs775753197	3:52,130,705	G/A	—	likely benign
rs768712874	3:52,130,717	G/A	—	likely benign
rs148621548	3:52,130,726	T/C	—	likely benign
rs1365096545	3:52,130,736	C/A	—	likely benign
rs1288492899	3:52,130,738	G/A	—	likely benign
rs767996745	3:52,130,748	A/C	—	likely benign
rs780164701	3:52,156,394	C/T	—	pathogenic
rs539829904	3:52,156,396	A/G	—	uncertain significance
rs1359127724	3:52,156,398	A/G	—	likely benign
rs1289690139	3:52,156,404	C/T	—	uncertain significance
rs2470841441	3:52,156,409	A/C	—	uncertain significance
rs2470841454	3:52,156,412	T/C	—	uncertain significance
rs1703814091	3:52,156,419	T/C	—	likely benign
rs2470841524	3:52,156,430	G/A	—	uncertain significance
rs762363654	3:52,156,444	G/A	—	conflicting classifications of pathogenicity
rs763717291	3:52,156,457	G/A	—	likely benign
rs115238307	3:52,156,461	A/C	—	benign
rs767309174	3:52,156,474	T/C	—	uncertain significance
rs2107090748	3:52,156,483	C/T	—	likely pathogenic
rs948393275	3:52,156,487	C/T	—	uncertain significance
rs755003532	3:52,156,511	C/A	—	likely benign
rs115598261	3:52,158,955	A/G	—	benign
rs1184314971	3:52,159,122	T/C	—	likely benign
rs146848374	3:52,159,128	C/T	—	likely pathogenic
rs138210707	3:52,159,165	C/T	—	benign
rs7649715	3:52,159,166	G/A	—	likely benign
rs1559836324	3:52,159,175	A/C	—	uncertain significance
rs1472646910	3:52,159,207	C/T	—	likely benign
rs13081228	3:52,159,476	A/G	—	benign
rs149906693	3:52,163,603	T/C	intron variant	—
rs771777720	3:52,172,173	G/A	—	likely benign
rs539965621	3:52,172,175	C/T	—	likely benign
rs1577906030	3:52,172,176	A/G	—	likely benign
rs1296271067	3:52,172,191	C/T	—	likely benign
rs201155173	3:52,172,194	G/A	—	likely benign
rs748933903	3:52,172,200	T/C	—	likely benign
rs2107159652	3:52,172,212	C/T	—	likely benign
rs759259082	3:52,172,213	C/T	—	uncertain significance
rs146976547	3:52,172,214	G/A	—	conflicting classifications of pathogenicity
rs141779122	3:52,172,222	A/G	—	uncertain significance
rs200302303	3:52,172,229	C/T	—	uncertain significance
rs1307575298	3:52,172,233	G/A	—	likely benign
rs2470879922	3:52,172,236	C/T	—	likely benign
rs1313378846	3:52,172,241	G/A	—	likely benign
rs756441431	3:52,172,266	C/G	—	likely benign
rs1203995886	3:52,172,269	G/C	—	pathogenic
rs1698049524	3:52,172,273	T/C	—	uncertain significance
rs540277589	3:52,172,280	A/T	—	uncertain significance
rs2470880259	3:52,172,312	C/T	—	uncertain significance
rs926613306	3:52,172,318	A/G	—	uncertain significance
rs1698054873	3:52,172,328	G/A	—	likely benign
rs13064488	3:52,172,337	T/A	—	benign
rs148576317	3:52,178,556	G/A	regulatory region variant	—
rs2470900007	3:52,179,842	G/A	—	likely benign
rs1698342541	3:52,179,845	G/A	—	likely benign
rs926946290	3:52,179,854	C/T	—	likely benign
rs768523467	3:52,179,863	C/T	—	uncertain significance
rs1436865238	3:52,179,884	G/C	—	uncertain significance
rs201451821	3:52,179,886	G/A	—	uncertain significance
rs372247136	3:52,179,892	G/A	—	pathogenic
rs139462706	3:52,179,895	C/T	—	uncertain significance
rs749016718	3:52,179,922	T/C	—	uncertain significance
rs200751916	3:52,179,925	C/T	—	uncertain significance
rs780017055	3:52,179,927	G/C	—	uncertain significance
rs139147068	3:52,179,931	C/T	—	conflicting classifications of pathogenicity
rs1698348475	3:52,179,940	A/G	—	uncertain significance
rs372698665	3:52,179,952	G/A	—	uncertain significance
rs144052887	3:52,179,955	G/A	—	uncertain significance
rs562051715	3:52,179,966	T/C	—	conflicting classifications of pathogenicity
rs1193799262	3:52,179,967	A/C	—	uncertain significance
rs148568140	3:52,179,970	T/C	—	uncertain significance
rs377149161	3:52,179,987	C/G	—	likely benign
rs1698385299	3:52,180,990	A/G	—	likely benign
rs1160877079	3:52,180,992	C/G	—	likely benign
rs758276409	3:52,181,005	C/T	—	uncertain significance
rs2107194153	3:52,181,010	T/C	—	uncertain significance
rs1698387096	3:52,181,022	G/A	—	uncertain significance
rs745977339	3:52,181,036	C/T	—	likely benign
rs150182187	3:52,181,037	C/T	—	uncertain significance
rs147071412	3:52,181,038	G/A	—	uncertain significance
rs200641941	3:52,181,048	G/A	—	likely benign
rs397514488	3:52,181,055	A/G	missense variant	pathogenic
rs768032391	3:52,181,084	C/A	—	likely benign
rs753301992	3:52,181,087	G/C	—	uncertain significance
rs759047319	3:52,181,089	T/C	—	uncertain significance
rs370528660	3:52,181,095	G/A	—	conflicting classifications of pathogenicity
rs780253447	3:52,181,101	C/T	—	uncertain significance

Showing 100 of 157 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.