CHL1

cell adhesion molecule L1 like

Summary

The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]

Known Variants166 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1516338	3:236,759	C/T	upstream gene variant	—
rs1516340	3:237,075	C/T	upstream gene variant	—
rs73016741	3:251,097	C/G	intron variant	—
rs539411145	3:252,789	G/A	—	—
rs11917787	3:253,919	A/G	intron variant	—
rs2133402	3:256,258	T/G	intron variant	—
rs2055314	3:269,035	C/A	—	—
rs6764363	3:312,349	T/C	intron variant	—
rs331894	3:336,766	C/T	intron variant	—
rs1247101959	3:361,464	A/G	—	uncertain significance
rs766336847	3:361,466	C/A	—	uncertain significance
rs139673243	3:361,487	C/G	—	likely benign
rs766975263	3:361,495	A/G	—	likely benign
rs2272522	3:361,508	C/T	missense variant	benign
rs116261368	3:361,547	T/G	—	benign
rs200543338	3:367,639	T/A	—	benign
rs144884920	3:367,645	A/G	—	uncertain significance
rs148331501	3:367,678	T/C	—	conflicting classifications of pathogenicity
rs144055818	3:367,705	A/G	—	likely benign
rs767097207	3:367,744	C/T	—	uncertain significance
rs162734	3:367,757	G/C	—	benign
rs200045243	3:369,856	G/A	—	benign
rs1373131590	3:369,892	C/T	—	likely benign
rs2470177629	3:369,930	G/A	—	likely benign
rs13318299	3:369,931	G/A	—	likely benign
rs770642813	3:369,950	A/G	—	uncertain significance
rs369767790	3:369,975	G/A	—	conflicting classifications of pathogenicity
rs780875423	3:370,046	T/G	—	likely benign
rs569399366	3:370,601	G/A	—	—
rs1399985526	3:382,515	G/A	—	uncertain significance
rs148439738	3:382,529	A/C	—	likely benign
rs370700494	3:382,531	A/G	—	uncertain significance
rs143704896	3:383,608	C/T	—	likely benign
rs373871502	3:383,656	C/T	—	likely benign
rs138803649	3:383,662	C/T	—	likely benign
rs372072266	3:383,681	C/T	—	uncertain significance
rs200205248	3:383,682	G/A	—	uncertain significance
rs116736772	3:383,734	G/C	—	uncertain significance
rs756748567	3:383,744	A/G	—	uncertain significance
rs116421102	3:383,757	T/C	—	uncertain significance
rs779243871	3:383,772	C/T	—	likely benign
rs1442973155	3:384,679	A/C	—	uncertain significance
rs200496058	3:384,683	C/G	—	uncertain significance
rs73817633	3:384,691	C/T	—	benign
rs977324715	3:386,284	A/G	—	uncertain significance
rs2470324142	3:386,302	T/A	—	uncertain significance
rs989945938	3:386,311	C/T	—	uncertain significance
rs933609857	3:391,039	C/T	—	uncertain significance
rs1486745500	3:391,046	A/T	—	uncertain significance
rs779436992	3:391,047	C/T	—	uncertain significance
rs368796474	3:391,090	G/C	—	uncertain significance
rs1317932198	3:391,131	T/C	—	uncertain significance
rs61741128	3:391,139	G/A	—	benign
rs201671256	3:391,167	G/A	—	uncertain significance
rs552287486	3:391,191	G/C	—	uncertain significance
rs1412972132	3:391,199	A/C	—	uncertain significance
rs750208562	3:391,200	C/T	—	uncertain significance
rs568829542	3:396,319	C/T	—	likely benign
rs776588753	3:396,340	A/G	—	uncertain significance
rs377116247	3:396,374	G/T	—	uncertain significance
rs139046622	3:396,445	C/A	—	uncertain significance
rs892295	3:397,553	A/C	—	—
rs1416595640	3:402,005	A/G	—	uncertain significance
rs778684575	3:402,018	A/G	—	uncertain significance
rs925877053	3:402,035	A/T	—	uncertain significance
rs199822757	3:402,042	T/C	—	likely benign
rs747927522	3:402,102	T/C	—	uncertain significance
rs200853718	3:402,117	C/T	—	benign
rs1438676892	3:403,390	C/G	—	uncertain significance
rs200312405	3:403,395	G/T	—	uncertain significance
rs148288092	3:403,425	T/C	—	likely benign
rs372763101	3:403,426	A/G	—	likely benign
rs779625851	3:403,432	G/C	—	uncertain significance
rs115905004	3:403,470	T/C	—	benign
rs760388683	3:404,906	G/T	—	uncertain significance
rs2470476681	3:404,931	G/A	—	uncertain significance
rs2470476967	3:404,943	C/T	—	uncertain significance
rs147811720	3:404,982	A/G	—	conflicting classifications of pathogenicity
rs143674187	3:404,985	G/A	—	likely benign
rs1704478207	3:405,034	A/C	—	uncertain significance
rs200526741	3:405,040	C/T	—	uncertain significance
rs930202354	3:405,054	T/G	—	uncertain significance
rs2470500523	3:407,647	A/G	—	uncertain significance
rs2470500641	3:407,653	T/G	—	uncertain significance
rs1465074478	3:407,694	A/C	—	uncertain significance
rs138000940	3:407,753	G/A	—	likely benign
rs143907501	3:407,785	A/G	—	uncertain significance
rs528019956	3:407,790	A/T	—	uncertain significance
rs149981944	3:419,546	A/T	—	likely benign
rs372673845	3:419,557	G/C	—	uncertain significance
rs748576243	3:419,578	A/C	—	uncertain significance
rs267599818	3:419,586	C/G	—	uncertain significance
rs745914214	3:419,600	C/T	—	likely benign
rs186218301	3:419,601	G/A	—	conflicting classifications of pathogenicity
rs200475792	3:423,879	G/A	—	uncertain significance
rs201934893	3:423,925	C/T	—	uncertain significance
rs550882168	3:423,934	C/A	—	uncertain significance
rs778693986	3:423,945	C/T	—	uncertain significance
rs1490864621	3:423,948	A/G	—	uncertain significance
rs2470683439	3:423,949	A/C	—	uncertain significance

Showing 100 of 166 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.