CLTCL1

clathrin heavy chain like 1

Summary

This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

Known Variants156 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs199569593	22:19,168,277	C/T	—	uncertain significance
rs5748024	22:19,168,288	C/T	—	benign
rs545321400	22:19,170,928	T/C	—	uncertain significance
rs2073738	22:19,170,956	C/T	missense variant	benign
rs2517308227	22:19,170,984	C/T	—	likely benign
rs375099943	22:19,171,031	C/T	—	uncertain significance
rs200009376	22:19,171,053	C/G	—	uncertain significance
rs149854151	22:19,171,083	C/T	—	likely benign
rs2517310245	22:19,171,093	T/C	—	uncertain significance
rs1771540	22:19,173,933	T/A	intron variant	—
rs782379522	22:19,175,123	T/A	—	uncertain significance
rs199562273	22:19,175,161	A/G	—	uncertain significance
rs55790642	22:19,175,213	C/T	—	uncertain significance
rs540713106	22:19,175,239	C/G	—	likely benign
rs551813305	22:19,175,486	C/T	—	likely benign
rs782127093	22:19,175,531	C/T	—	uncertain significance
rs535724317	22:19,175,579	G/A	—	uncertain significance
rs782625613	22:19,175,595	C/G	—	uncertain significance
rs2084373043	22:19,175,596	T/C	—	uncertain significance
rs1780638	22:19,177,522	A/C	—	—
rs1780637	22:19,178,250	A/G	intron variant	—
rs190366603	22:19,178,854	G/A	—	uncertain significance
rs527491655	22:19,178,867	C/A	—	likely benign
rs1555931985	22:19,178,908	A/G	—	uncertain significance
rs372375390	22:19,183,767	C/T	—	benign
rs1633399	22:19,183,787	A/G	—	benign
rs568202121	22:19,183,863	C/T	—	uncertain significance
rs2517429865	22:19,183,878	G/A	—	uncertain significance
rs372686427	22:19,183,918	C/T	—	likely benign
rs2066732	22:19,183,995	G/A	—	benign
rs1555935781	22:19,184,005	G/A	—	uncertain significance
rs556579608	22:19,184,010	T/C	—	uncertain significance
rs369672659	22:19,184,064	T/A	—	uncertain significance
rs1061325	22:19,184,095	T/C	missense variant	benign
rs200525646	22:19,184,126	C/T	—	likely benign
rs184612047	22:19,184,171	G/C	—	conflicting classifications of pathogenicity
rs782053898	22:19,187,292	T/C	—	uncertain significance
rs782011269	22:19,188,850	G/A	—	uncertain significance
rs181471959	22:19,188,876	G/A	—	benign
rs2517468346	22:19,188,914	A/C	—	uncertain significance
rs201292541	22:19,188,971	C/T	—	uncertain significance
rs782274056	22:19,188,994	C/T	—	uncertain significance
rs782414713	22:19,188,995	G/C	—	uncertain significance
rs782638983	22:19,195,669	G/A	—	uncertain significance
rs807547	22:19,195,680	T/C	—	benign
rs1555944044	22:19,195,696	T/C	—	uncertain significance
rs1555944140	22:19,195,759	T/C	—	uncertain significance
rs372594770	22:19,195,770	C/T	—	conflicting classifications of pathogenicity
rs190351859	22:19,195,771	G/A	—	benign
rs782655174	22:19,195,780	T/G	—	uncertain significance
rs182543131	22:19,196,449	T/C	—	uncertain significance
rs371641807	22:19,196,479	T/C	—	uncertain significance
rs2146381314	22:19,196,485	C/T	—	uncertain significance
rs200487007	22:19,196,537	G/T	—	uncertain significance
rs369687427	22:19,196,561	G/C	—	uncertain significance
rs1555944889	22:19,196,568	G/T	—	uncertain significance
rs782490203	22:19,196,571	T/A	—	uncertain significance
rs377155728	22:19,196,578	G/A	—	uncertain significance
rs782610066	22:19,196,593	C/T	—	uncertain significance
rs782239437	22:19,196,594	G/A	—	uncertain significance
rs2517551849	22:19,197,885	T/A	—	uncertain significance
rs563873320	22:19,197,904	T/C	—	uncertain significance
rs189528417	22:19,197,917	C/T	—	likely benign
rs377403617	22:19,197,920	G/A	—	likely benign
rs191966359	22:19,197,948	C/G	—	uncertain significance
rs712952	22:19,197,949	G/A	—	benign
rs140709833	22:19,197,988	T/A	—	conflicting classifications of pathogenicity
rs117542241	22:19,198,017	T/A	—	benign
rs201131419	22:19,203,625	G/A	—	uncertain significance
rs113436111	22:19,203,680	A/G	—	benign
rs782681323	22:19,203,766	C/T	—	uncertain significance
rs200181618	22:19,207,470	A/C	—	uncertain significance
rs36077768	22:19,207,479	C/T	—	benign
rs35398725	22:19,207,491	T/C	—	benign
rs374574720	22:19,208,928	C/T	—	uncertain significance
rs925504536	22:19,208,936	G/C	—	likely benign
rs1190343245	22:19,208,961	C/T	—	uncertain significance
rs782006324	22:19,208,977	G/A	—	uncertain significance
rs782790344	22:19,209,532	C/T	—	uncertain significance
rs782601002	22:19,209,536	G/C	—	uncertain significance
rs112636081	22:19,209,603	C/T	—	benign
rs782787252	22:19,211,427	T/C	—	uncertain significance
rs372616685	22:19,211,431	C/T	—	uncertain significance
rs181639433	22:19,211,467	T/A	—	likely benign
rs782040856	22:19,211,506	C/T	—	uncertain significance
rs2517680866	22:19,211,522	A/C	—	uncertain significance
rs1271680225	22:19,211,526	A/G	—	uncertain significance
rs1060374	22:19,213,033	C/T	—	benign
rs367815723	22:19,213,091	C/T	—	likely benign
rs145514163	22:19,213,744	C/T	—	conflicting classifications of pathogenicity
rs45590542	22:19,213,835	C/T	—	likely benign
rs1555956120	22:19,213,888	C/T	—	uncertain significance
rs181548471	22:19,217,364	G/A	—	benign
rs2517730935	22:19,217,371	T/A	—	uncertain significance
rs2517731252	22:19,217,401	T/C	—	uncertain significance
rs2517731416	22:19,217,413	T/G	—	uncertain significance
rs45489597	22:19,217,422	C/T	—	likely benign
rs781949667	22:19,217,455	G/A	—	uncertain significance
rs149073351	22:19,219,991	A/G	—	likely benign
rs370790971	22:19,220,026	G/A	—	likely benign

Showing 100 of 156 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.