CRB1

crumbs cell polarity complex component 1

Summary

This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]

Known Variants1,480 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs188500272	1:197,171,694	T/G	upstream gene variant	—
rs142894249	1:197,179,651	G/A	intron variant	—
rs111714760	1:197,181,988	C/T	intron variant	—
rs544047392	1:197,237,339	C/T	—	uncertain significance
rs886045782	1:197,237,348	G/A	—	uncertain significance
rs1654712316	1:197,237,487	C/G	—	uncertain significance
rs965921500	1:197,237,488	C/T	—	uncertain significance
rs202209651	1:197,237,541	C/G	—	uncertain significance
rs1203732030	1:197,237,546	G/A	—	uncertain significance
rs1209711185	1:197,237,551	T/C	—	likely benign
rs1452970703	1:197,237,554	G/A	—	likely benign
rs139427846	1:197,237,556	A/G	—	uncertain significance
rs1184713975	1:197,237,557	C/T	—	likely benign
rs1044326530	1:197,237,566	C/T	—	likely benign
rs201609001	1:197,237,571	T/C	—	conflicting classifications of pathogenicity
rs1412462070	1:197,237,572	C/T	—	likely benign
rs551204372	1:197,237,582	C/T	—	uncertain significance
rs2125193970	1:197,237,584	C/G	—	likely benign
rs769695428	1:197,237,596	G/A	—	likely benign
rs1654721848	1:197,237,602	C/T	—	likely benign
rs942887802	1:197,237,604	A/G	—	uncertain significance
rs1654722291	1:197,237,605	C/A	—	pathogenic
rs762741389	1:197,237,607	T/A	—	uncertain significance
rs2125194017	1:197,237,608	A/T	—	likely benign
rs1237424465	1:197,237,613	G/A	—	pathogenic
rs1654723466	1:197,237,614	T/A	—	likely pathogenic
rs1358042113	1:197,237,619	C/T	—	likely benign
rs763662967	1:197,237,620	T/C	—	likely benign
rs2464581533	1:197,237,625	C/G	—	likely benign
rs2125194054	1:197,237,629	T/G	—	likely benign
rs774025152	1:197,237,630	T/G	—	likely benign
rs1654725366	1:197,237,632	G/A	—	likely benign
rs141812687	1:197,246,095	T/C	intron variant	—
rs574555306	1:197,250,609	C/T	—	—
rs79505108	1:197,262,184	C/T	intron variant	—
rs75620013	1:197,266,940	G/A	intron variant	—
rs549636382	1:197,272,700	T/A	—	—
rs672769	1:197,274,118	T/C	regulatory region variant	—
rs141813854	1:197,281,481	G/A	regulatory region variant	—
rs550098	1:197,297,408	A/G	—	benign
rs12042924	1:197,297,417	T/C	—	benign
rs569940169	1:197,297,532	T/C	—	likely benign
rs748239943	1:197,297,534	C/T	—	likely benign
rs757150006	1:197,297,535	T/A	—	likely benign
rs374653244	1:197,297,538	T/C	—	likely benign
rs2465023453	1:197,297,539	T/A	—	likely benign
rs12042179	1:197,297,540	A/T	—	likely benign
rs2125303442	1:197,297,542	T/A	—	likely benign
rs571591819	1:197,297,543	T/C	—	likely benign
rs1193968246	1:197,297,544	C/T	—	likely benign
rs1158168007	1:197,297,545	C/T	—	likely benign
rs918243631	1:197,297,546	T/C	—	likely benign
rs1461641922	1:197,297,548	G/T	—	likely benign
rs1383691293	1:197,297,550	A/G	—	likely pathogenic
rs768441650	1:197,297,556	C/T	—	likely benign
rs2125303508	1:197,297,559	T/C	—	likely benign
rs1460946384	1:197,297,561	G/C	—	pathogenic
rs1342033464	1:197,297,565	T/C	—	likely benign
rs1030616952	1:197,297,573	A/C	—	uncertain significance
rs1403502944	1:197,297,577	C/G	—	likely benign
rs1452416023	1:197,297,578	A/G	—	uncertain significance
rs1658648856	1:197,297,579	G/A	—	uncertain significance
rs59691602	1:197,297,580	G/T	—	conflicting classifications of pathogenicity
rs2125303585	1:197,297,583	C/T	—	likely benign
rs1158559936	1:197,297,585	T/C	—	uncertain significance
rs2125303600	1:197,297,588	C/A	—	pathogenic
rs2465024530	1:197,297,589	A/G	—	likely benign
rs2125303623	1:197,297,595	T/C	—	likely benign
rs2465024880	1:197,297,598	C/A	—	pathogenic
rs766622294	1:197,297,604	C/T	—	likely benign
rs1254919944	1:197,297,608	T/C	—	uncertain significance
rs2125303659	1:197,297,610	T/A	—	likely benign
rs754232939	1:197,297,613	A/G	—	likely benign
rs145141811	1:197,297,616	C/G	—	uncertain significance
rs2465025276	1:197,297,618	A/C	—	uncertain significance
rs1240979285	1:197,297,621	A/G	—	uncertain significance
rs765448599	1:197,297,623	T/A	—	uncertain significance
rs2125303703	1:197,297,625	T/C	—	likely benign
rs2465025477	1:197,297,634	C/T	—	likely benign
rs143046320	1:197,297,637	T/C	—	likely benign
rs140428156	1:197,297,642	G/T	—	conflicting classifications of pathogenicity
rs1426861310	1:197,297,643	T/C	—	likely benign
rs2465025741	1:197,297,655	C/T	—	likely benign
rs1284729199	1:197,297,657	C/T	—	uncertain significance
rs750294087	1:197,297,659	G/A	—	uncertain significance
rs375702596	1:197,297,661	C/G	—	likely benign
rs1338529935	1:197,297,664	T/C	—	likely benign
rs1658656380	1:197,297,679	C/T	—	likely benign
rs749112809	1:197,297,681	G/C	—	uncertain significance
rs778707167	1:197,297,682	T/C	—	likely benign
rs1302750453	1:197,297,688	C/T	—	likely benign
rs771462053	1:197,297,689	A/G	—	uncertain significance
rs2125303816	1:197,297,694	A/G	—	likely benign
rs2465026444	1:197,297,699	C/T	—	uncertain significance
rs772819260	1:197,297,703	C/A	—	pathogenic
rs2465026532	1:197,297,709	C/T	—	likely benign
rs1216212132	1:197,297,715	C/T	—	likely benign
rs1658660736	1:197,297,719	C/G	—	uncertain significance
rs1658660906	1:197,297,720	A/T	—	uncertain significance
rs1658661237	1:197,297,726	G/A	—	uncertain significance

Showing 100 of 1,480 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.