CNTN4

contactin 4

Summary

This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]

Known Variants234 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs56245785	3:2,145,941	C/A	—	—
rs73013131	3:2,182,902	A/G	intron variant	—
rs540167928	3:2,184,133	C/T	—	—
rs573066786	3:2,211,961	G/C	—	—
rs2320380	3:2,233,391	T/C	—	—
rs577953520	3:2,312,775	C/T	—	—
rs112113758	3:2,333,916	G/A	—	—
rs2320386	3:2,348,589	C/A	intron variant	—
rs62243961	3:2,358,363	C/T	intron variant	—
rs528519891	3:2,370,096	T/A	—	—
rs62243994	3:2,375,772	C/T	intron variant	—
rs1178548	3:2,378,382	C/A	—	—
rs17013524	3:2,423,127	T/G	intron variant	—
rs35346733	3:2,521,322	G/C	—	—
rs1254855756	3:2,526,072	G/A	—	uncertain significance
rs1125102	3:2,534,560	C/A	—	benign
rs1551997	3:2,534,772	G/A	—	benign
rs66492629	3:2,538,280	G/A	intron variant	—
rs17786957	3:2,550,093	G/C	intron variant	—
rs1382874	3:2,555,422	T/C	intron variant	—
rs1382875	3:2,555,483	T/A	—	—
rs182265848	3:2,579,507	G/T	intron variant	—
rs7649181	3:2,584,376	T/G	—	benign
rs57510276	3:2,584,739	A/G	—	benign
rs78728103	3:2,612,778	G/A	—	benign
rs2616585	3:2,613,001	A/G	—	benign
rs901678946	3:2,613,220	A/G	—	likely benign
rs112813310	3:2,613,232	G/C	—	benign
rs2471092776	3:2,613,236	C/G	—	uncertain significance
rs2619566	3:2,624,938	G/T	—	—
rs73110658	3:2,634,287	T/C	—	benign
rs4370013	3:2,654,691	A/T	intron variant	—
rs9849237	3:2,675,189	T/C	—	association
rs9813374	3:2,684,314	A/G	—	benign
rs2728076	3:2,684,357	G/A	—	benign
rs1024147	3:2,734,207	C/A	—	benign
rs1554198	3:2,777,622	A/G	—	benign
rs143914533	3:2,777,826	C/T	—	benign
rs769168400	3:2,777,927	T/A	—	uncertain significance
rs536718929	3:2,777,958	T/G	—	uncertain significance
rs968013770	3:2,777,994	G/C	—	uncertain significance
rs747428832	3:2,778,015	C/A	—	uncertain significance
rs777082764	3:2,778,018	C/A	—	uncertain significance
rs6789880	3:2,778,159	A/T	—	benign
rs1914015	3:2,778,166	G/A	—	benign
rs114534524	3:2,784,154	G/T	—	benign
rs78578205	3:2,787,233	C/T	—	benign
rs1313131337	3:2,787,238	G/C	—	uncertain significance
rs769818216	3:2,787,250	G/A	—	uncertain significance
rs375898825	3:2,787,279	A/T	—	uncertain significance
rs373163297	3:2,787,328	C/T	—	uncertain significance
rs116041691	3:2,787,338	G/A	—	benign
rs754622328	3:2,787,373	A/G	—	uncertain significance
rs78860599	3:2,787,408	A/C	—	benign
rs4685547	3:2,787,532	A/G	—	benign
rs7652782	3:2,821,616	G/A	intron variant	—
rs2320964	3:2,826,834	G/C	—	—
rs78395781	3:2,834,397	G/A	—	benign
rs6787088	3:2,834,398	G/A	—	benign
rs975334	3:2,846,316	G/C	—	—
rs6414446	3:2,858,535	C/T	intron variant	—
rs1184952130	3:2,861,177	C/G	—	likely benign
rs576375620	3:2,861,218	G/A	—	likely benign
rs66521652	3:2,883,889	G/A	—	benign
rs11713158	3:2,895,684	T/C	intron variant	—
rs6442761	3:2,908,335	G/A	—	benign
rs200056087	3:2,908,446	T/C	—	benign
rs529765389	3:2,908,460	A/G	—	uncertain significance
rs765118168	3:2,908,489	C/T	—	uncertain significance
rs2473146795	3:2,908,492	T/G	—	uncertain significance
rs1281946309	3:2,908,495	G/A	—	uncertain significance
rs200414214	3:2,908,507	A/G	—	conflicting classifications of pathogenicity
rs149729477	3:2,908,512	G/A	—	benign
rs201525733	3:2,908,513	A/G	—	uncertain significance
rs771430690	3:2,908,524	T/C	—	likely benign
rs35687367	3:2,908,537	A/C	—	likely benign
rs559646321	3:2,908,558	A/G	—	uncertain significance
rs145596001	3:2,908,578	C/T	—	likely benign
rs1386953706	3:2,908,619	T/A	—	uncertain significance
rs919752805	3:2,908,621	T/C	—	likely benign
rs6789163	3:2,908,694	G/A	—	benign
rs17021682	3:2,924,626	T/G	—	benign
rs4685575	3:2,924,686	G/A	—	benign
rs9839455	3:2,924,796	T/G	—	benign
rs78402963	3:2,924,838	G/A	—	benign
rs577358521	3:2,924,884	G/T	—	likely benign
rs1316109477	3:2,924,894	G/A	—	uncertain significance
rs9839775	3:2,924,944	T/G	—	benign
rs13089241	3:2,924,986	A/G	—	benign
rs9843730	3:2,925,015	T/C	—	benign
rs17646346	3:2,925,030	G/A	—	benign
rs9857024	3:2,925,130	G/A	—	benign
rs36013854	3:2,928,672	G/A	—	benign
rs374337121	3:2,928,755	G/A	—	uncertain significance
rs2093987496	3:2,928,763	G/A	—	likely benign
rs199903859	3:2,928,764	C/T	—	uncertain significance
rs2093987580	3:2,928,767	A/G	—	uncertain significance
rs141461698	3:2,928,874	G/C	—	likely benign
rs79513815	3:2,933,850	G/A	—	benign
rs76880377	3:2,933,920	C/A	—	benign

Showing 100 of 234 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.