CNTN5

contactin 5

Summary

The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Known Variants171 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs148176760	11:98,889,984	T/C	upstream gene variant	—
rs11218280	11:98,935,660	A/G	intron variant	—
rs11218422	11:98,982,974	T/A	—	—
rs150289207	11:98,985,585	T/C	intron variant	—
rs185634583	11:99,028,607	G/C	intron variant	—
rs11218600	11:99,036,199	G/A	intron variant	—
rs4643043	11:99,037,998	C/G	—	—
rs4316475	11:99,051,522	G/A	intron variant	—
rs2100834	11:99,060,750	G/T	intron variant	—
rs1461680	11:99,065,261	G/A	intron variant	—
rs10893002	11:99,127,252	T/A	intron variant	—
rs763129393	11:99,142,051	G/T	—	—
rs78324540	11:99,153,511	A/G	intron variant	—
rs374188388	11:99,154,376	T/G	—	—
rs181105372	11:99,164,438	C/T	intron variant	—
rs1461672	11:99,175,378	T/C	intron variant	—
rs1461677	11:99,187,882	T/C	—	—
rs72983716	11:99,193,667	T/G	—	—
rs2614546	11:99,204,253	T/C	intron variant	—
rs72983777	11:99,216,623	C/T	intron variant	—
rs187029593	11:99,226,117	T/G	intron variant	—
rs535929585	11:99,296,618	C/T	—	—
rs534159225	11:99,350,518	T/C	—	—
rs145887885	11:99,374,826	T/A	intron variant	—
rs187844094	11:99,380,207	G/A	intron variant	—
rs561211983	11:99,400,634	A/G	—	—
rs781294747	11:99,426,968	T/A	—	uncertain significance
rs10501920	11:99,493,173	C/G	intron variant	—
rs1690816	11:99,496,849	C/T	intron variant	—
rs2458167	11:99,500,748	A/G	—	—
rs185335614	11:99,501,707	G/A	intron variant	—
rs576312399	11:99,505,065	C/T	—	—
rs598046	11:99,516,468	T/G	intron variant	—
rs586533	11:99,520,508	G/T	intron variant	—
rs142303423	11:99,551,994	T/A	intron variant	—
rs140680281	11:99,575,431	T/G	intron variant	—
rs952700	11:99,585,736	G/A	intron variant	—
rs1301838	11:99,670,514	C/T	intron variant	—
rs200519976	11:99,690,413	C/A	—	uncertain significance
rs778655565	11:99,690,424	T/G	—	uncertain significance
rs1946731042	11:99,690,426	G/T	—	uncertain significance
rs7125822	11:99,690,428	T/G	—	benign
rs201399847	11:99,690,434	C/A	—	uncertain significance
rs201079661	11:99,690,506	A/G	—	benign
rs201796913	11:99,715,635	T/C	—	likely benign
rs200358286	11:99,715,665	C/A	—	uncertain significance
rs200429080	11:99,715,683	G/A	—	uncertain significance
rs201512506	11:99,715,691	C/T	—	uncertain significance
rs780791907	11:99,715,881	G/A	—	uncertain significance
rs61749255	11:99,715,891	T/G	—	benign
rs909461929	11:99,715,892	A/G	—	uncertain significance
rs61749256	11:99,715,897	C/T	—	likely benign
rs2496635176	11:99,715,968	G/A	—	uncertain significance
rs138587682	11:99,733,068	C/T	intron variant	—
rs74603527	11:99,745,220	A/G	intron variant	—
rs10501927	11:99,757,729	T/G	intron variant	—
rs200949680	11:99,786,838	C/T	—	likely benign
rs778708984	11:99,786,867	C/A	—	uncertain significance
rs751415649	11:99,827,578	T/G	—	uncertain significance
rs201937561	11:99,827,665	T/C	—	likely benign
rs780533843	11:99,827,693	A/G	—	uncertain significance
rs6590474	11:99,853,173	A/C	intron variant	—
rs12273744	11:99,861,275	A/G	intron variant	—
rs12277155	11:99,862,406	T/C	intron variant	—
rs2407309	11:99,862,625	G/T	intron variant	—
rs888597	11:99,862,785	A/G	intron variant	—
rs737583	11:99,863,183	G/A	intron variant	—
rs737582	11:99,863,401	G/A	intron variant	—
rs6590489	11:99,863,775	T/C	intron variant	—
rs4258342	11:99,865,248	A/G	intron variant	—
rs4269885	11:99,865,549	G/A	intron variant	—
rs7125241	11:99,865,706	G/A	intron variant	—
rs7125266	11:99,865,752	G/A	intron variant	—
rs7114978	11:99,865,921	T/A	intron variant	—
rs1377580	11:99,866,163	T/A	—	—
rs1035339	11:99,866,660	C/T	intron variant	—
rs6590495	11:99,866,998	T/C	intron variant	—
rs12282593	11:99,871,361	A/G	intron variant	—
rs1833489	11:99,872,172	T/C	intron variant	—
rs369992461	11:99,872,771	A/T	—	uncertain significance
rs753184076	11:99,872,803	T/G	—	uncertain significance
rs7947224	11:99,873,410	T/C	intron variant	—
rs11222291	11:99,873,546	T/C	intron variant	—
rs12287931	11:99,876,222	G/A	intron variant	—
rs3909276	11:99,878,216	A/G	intron variant	—
rs12289401	11:99,880,224	A/G	intron variant	—
rs113132209	11:99,931,939	C/T	—	likely benign
rs201910584	11:99,931,945	C/T	—	uncertain significance
rs200403626	11:99,932,000	G/A	—	uncertain significance
rs777432657	11:99,932,006	G/A	—	uncertain significance
rs186615197	11:99,932,010	A/T	—	likely benign
rs200224105	11:99,932,023	C/A	—	uncertain significance
rs56122118	11:99,932,033	C/T	—	conflicting classifications of pathogenicity
rs776919295	11:99,932,037	T/G	—	uncertain significance
rs201982881	11:99,932,088	T/A	—	benign
rs555949593	11:99,934,046	G/A	—	—
rs373783384	11:99,941,170	G/C	—	uncertain significance
rs751537534	11:99,941,189	C/T	—	uncertain significance
rs1283658380	11:99,941,246	G/T	—	uncertain significance
rs199970214	11:99,941,254	T/C	—	uncertain significance

Showing 100 of 171 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.