CELSR1

cadherin EGF LAG seven-pass G-type receptor 1

Summary

The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]

Known Variants476 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs377390643	22:46,759,908	T/G	—	uncertain significance
rs1196210079	22:46,759,919	G/T	—	uncertain significance
rs376054333	22:46,759,929	C/T	—	uncertain significance
rs1296004228	22:46,759,938	A/G	—	uncertain significance
rs77489567	22:46,759,940	G/C	—	benign
rs141868181	22:46,759,949	G/A	—	likely benign
rs28495011	22:46,759,967	C/T	—	benign
rs61741871	22:46,759,981	G/C	—	benign
rs1357067724	22:46,760,028	G/A	—	uncertain significance
rs375507061	22:46,760,036	C/T	—	likely benign
rs6008777	22:46,760,037	G/A	—	benign
rs199624773	22:46,760,065	C/T	—	uncertain significance
rs138095174	22:46,760,076	C/T	—	uncertain significance
rs142671138	22:46,760,077	G/A	—	uncertain significance
rs760482457	22:46,760,083	G/A	—	uncertain significance
rs35364389	22:46,760,086	C/T	—	benign
rs761231250	22:46,760,094	G/A	—	uncertain significance
rs6008778	22:46,760,102	C/T	—	benign
rs149360981	22:46,760,103	G/A	—	uncertain significance
rs199661483	22:46,760,115	G/T	—	conflicting classifications of pathogenicity
rs201509338	22:46,760,121	G/A	—	uncertain significance
rs147302444	22:46,760,470	C/T	—	likely benign
rs9615351	22:46,760,481	C/G	—	benign
rs147968025	22:46,760,507	C/A	—	likely benign
rs375408834	22:46,760,508	G/A	—	uncertain significance
rs367685212	22:46,760,509	G/A	—	likely benign
rs2518247592	22:46,760,519	A/G	—	uncertain significance
rs371493557	22:46,760,520	C/T	—	uncertain significance
rs755292351	22:46,760,531	G/A	—	uncertain significance
rs376694390	22:46,760,547	G/A	—	uncertain significance
rs768324793	22:46,760,558	C/A	—	uncertain significance
rs2147153269	22:46,760,571	T/G	—	uncertain significance
rs766880229	22:46,760,595	C/T	—	uncertain significance
rs767865626	22:46,760,599	C/A	—	uncertain significance
rs149673677	22:46,760,604	C/T	—	uncertain significance
rs758304665	22:46,760,609	G/A	—	likely benign
rs145409192	22:46,760,613	C/T	—	likely benign
rs1327276393	22:46,761,126	A/G	—	uncertain significance
rs1309847154	22:46,761,134	G/A	—	uncertain significance
rs141057075	22:46,761,146	C/T	—	likely benign
rs774223704	22:46,761,208	G/A	—	uncertain significance
rs372802690	22:46,761,238	T/A	—	uncertain significance
rs138188369	22:46,761,267	G/A	—	benign
rs561098968	22:46,761,489	G/A	—	uncertain significance
rs12165943	22:46,761,497	C/G	—	benign
rs1044750252	22:46,761,503	C/A	—	uncertain significance
rs147530261	22:46,761,520	G/A	—	benign
rs34191340	22:46,761,568	C/T	—	benign
rs538998117	22:46,762,275	G/A	—	likely benign
rs757174874	22:46,762,287	C/T	—	uncertain significance
rs2518256466	22:46,762,289	A/T	—	uncertain significance
rs144039991	22:46,762,301	G/A	—	likely benign
rs746719085	22:46,762,310	G/C	—	uncertain significance
rs2518256723	22:46,762,318	C/G	—	uncertain significance
rs771193237	22:46,762,344	C/T	—	uncertain significance
rs74699704	22:46,762,345	G/A	—	benign
rs2518257014	22:46,762,358	G/T	—	uncertain significance
rs78398495	22:46,762,902	G/A	—	benign
rs2518259813	22:46,762,965	C/T	—	likely benign
rs150881558	22:46,762,969	C/T	—	benign
rs138303327	22:46,762,970	G/C	—	likely benign
rs75983687	22:46,762,988	C/T	—	benign
rs200319625	22:46,763,006	C/A	—	uncertain significance
rs756350195	22:46,763,617	G/A	—	likely benign
rs151196514	22:46,763,654	T/C	—	benign
rs750773769	22:46,763,673	C/T	—	uncertain significance
rs11913544	22:46,763,692	C/A	—	likely benign
rs769256468	22:46,763,709	C/T	—	uncertain significance
rs142331942	22:46,763,711	C/T	—	uncertain significance
rs76868014	22:46,763,734	T/C	—	benign
rs1004166177	22:46,763,744	A/G	—	uncertain significance
rs141654308	22:46,763,750	G/T	—	benign
rs150688588	22:46,765,593	A/G	—	uncertain significance
rs2518270092	22:46,765,602	C/T	—	uncertain significance
rs139030774	22:46,765,655	G/A	—	likely benign
rs2518270353	22:46,765,664	G/T	—	uncertain significance
rs375467789	22:46,765,669	C/T	—	uncertain significance
rs368486498	22:46,765,681	G/C	—	uncertain significance
rs763787640	22:46,765,690	C/T	—	uncertain significance
rs535507325	22:46,765,705	A/C	—	likely benign
rs35852431	22:46,768,811	A/G	—	benign
rs777253987	22:46,768,824	C/T	—	uncertain significance
rs779270356	22:46,768,828	T/C	—	uncertain significance
rs1400388648	22:46,768,840	C/T	—	uncertain significance
rs866723729	22:46,768,898	G/A	—	likely benign
rs2147187765	22:46,768,899	G/A	—	uncertain significance
rs144517669	22:46,768,901	A/G	—	likely benign
rs148451995	22:46,768,912	T/C	—	conflicting classifications of pathogenicity
rs117272906	22:46,772,949	T/A	—	benign
rs2518290250	22:46,772,974	T/C	—	uncertain significance
rs550216008	22:46,772,987	C/T	—	uncertain significance
rs116079347	22:46,772,988	G/T	—	likely benign
rs2078926860	22:46,773,005	G/A	—	likely benign
rs779070124	22:46,773,012	C/T	—	likely benign
rs904712157	22:46,773,017	C/T	—	uncertain significance
rs141322099	22:46,773,018	G/A	—	benign
rs527727392	22:46,773,050	A/G	—	uncertain significance
rs200072284	22:46,773,053	G/A	—	conflicting classifications of pathogenicity
rs143291524	22:46,773,120	G/A	—	likely benign
rs2078929049	22:46,773,133	A/G	—	uncertain significance

Showing 100 of 476 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.