CD40LG

CD40 ligand

Summary

The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008]

Known Variants200 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs36206512	X:135,730,217	A/C	upstream gene variant	likely benign
rs184119101	X:135,730,219	A/C	—	likely benign
rs371664032	X:135,730,402	C/T	—	likely benign
rs767236871	X:135,730,413	C/T	—	benign
rs1350282799	X:135,730,414	G/A	—	uncertain significance
rs2148550523	X:135,730,422	C/A	—	pathogenic
rs1338696512	X:135,730,433	C/T	—	uncertain significance
rs375387574	X:135,730,437	C/G	—	benign
rs193922135	X:135,730,438	C/T	stop gained	pathogenic
rs145115086	X:135,730,439	G/A	—	likely benign
rs368003929	X:135,730,445	C/T	—	conflicting classifications of pathogenicity
rs779460863	X:135,730,446	G/A	—	benign
rs1359082888	X:135,730,456	C/G	—	uncertain significance
rs2522103774	X:135,730,463	T/G	—	uncertain significance
rs2522103776	X:135,730,467	C/G	—	uncertain significance
rs2076094894	X:135,730,480	A/G	—	uncertain significance
rs36063307	X:135,730,488	A/G	—	benign
rs1283517835	X:135,730,505	T/A	—	uncertain significance
rs104894774	X:135,730,514	T/A	missense variant	pathogenic
rs2076095000	X:135,730,515	G/A	—	uncertain significance
rs767319189	X:135,730,521	G/A	—	benign
rs2148550578	X:135,730,529	T/C	—	uncertain significance
rs2522103903	X:135,730,544	T/G	—	uncertain significance
rs1126535	X:135,730,555	T/C	synonymous variant	benign
rs144855738	X:135,730,564	G/A	—	pathogenic
rs2148550585	X:135,730,565	T/C	—	pathogenic
rs2148550590	X:135,730,567	A/G	—	uncertain significance
rs1424339099	X:135,730,570	T/A	—	likely benign
rs776610381	X:135,730,574	C/A	—	likely benign
rs2522104039	X:135,730,575	C/T	—	likely benign
rs755782893	X:135,730,580	G/A	—	benign
rs764007305	X:135,730,581	C/T	—	likely benign
rs5930973	X:135,732,148	G/A	—	benign
rs1238048280	X:135,732,406	C/T	—	likely benign
rs753345820	X:135,732,409	T/C	—	likely benign
rs1176649050	X:135,732,410	G/C	—	likely benign
rs372639733	X:135,732,433	T/C	—	likely benign
rs2148551084	X:135,732,434	G/T	—	pathogenic
rs2522106405	X:135,732,448	T/C	—	likely benign
rs771501540	X:135,732,459	T/C	—	benign
rs2148551094	X:135,732,471	C/T	—	uncertain significance
rs775209130	X:135,732,472	G/A	—	benign
rs2148551102	X:135,732,476	C/T	—	pathogenic
rs1556136635	X:135,732,484	C/A	—	pathogenic
rs2522106480	X:135,732,490	A/G	—	likely benign
rs200672738	X:135,732,500	T/C	—	conflicting classifications of pathogenicity
rs769933625	X:135,732,505	A/G	—	likely benign
rs761769948	X:135,732,517	C/T	—	likely benign
rs1556136676	X:135,732,524	G/A	—	uncertain significance
rs2522106589	X:135,732,532	A/G	—	likely benign
rs2522106594	X:135,732,536	C/T	—	pathogenic
rs2076100638	X:135,732,538	G/C	—	uncertain significance
rs1569376229	X:135,732,557	G/A	—	likely pathogenic
rs773041323	X:135,732,562	C/T	—	uncertain significance
rs3092936	X:135,736,205	T/C	—	benign
rs2522111530	X:135,736,505	G/T	—	likely benign
rs2148552369	X:135,736,513	G/T	—	likely benign
rs1186292119	X:135,736,514	C/A	—	likely benign
rs764859012	X:135,736,515	A/G	—	likely benign
rs2148552371	X:135,736,518	G/C	—	likely benign
rs374355208	X:135,736,525	A/G	—	likely benign
rs2148552377	X:135,736,530	A/C	—	pathogenic
rs2148552379	X:135,736,531	G/A	—	pathogenic
rs1004051141	X:135,736,533	A/G	—	uncertain significance
rs2522111616	X:135,736,542	T/A	—	pathogenic
rs1305903200	X:135,736,555	G/A	—	likely benign
rs376582437	X:135,736,557	C/A	—	uncertain significance
rs778398894	X:135,736,558	G/A	—	benign
rs1318466267	X:135,736,570	C/A	—	likely benign
rs368691563	X:135,736,573	C/A	—	uncertain significance
rs2522111690	X:135,736,578	A/G	—	uncertain significance
rs2076113325	X:135,736,583	C/T	—	likely pathogenic
rs2148552406	X:135,736,589	G/T	—	likely pathogenic
rs2148552407	X:135,736,590	G/A	—	pathogenic
rs2148552412	X:135,736,594	G/A	—	pathogenic
rs1198432224	X:135,736,601	A/G	—	likely benign
rs2522111775	X:135,736,603	T/A	—	likely benign
rs757648814	X:135,736,605	G/T	—	likely benign
rs1016790781	X:135,736,606	C/T	—	likely benign
rs2522112993	X:135,737,600	A/T	—	uncertain significance
rs2522114022	X:135,738,497	T/C	—	likely benign
rs2522114030	X:135,738,501	T/C	—	likely benign
rs950822004	X:135,738,509	T/A	—	likely benign
rs1569377237	X:135,738,513	A/G	—	pathogenic
rs2076118841	X:135,738,514	G/A	—	pathogenic
rs2148552902	X:135,738,515	G/A	—	uncertain significance
rs2076118899	X:135,738,528	T/C	—	likely benign
rs104894778	X:135,738,536	C/A	missense variant	pathogenic
rs148581967	X:135,738,537	G/A	—	likely benign
rs1603321148	X:135,738,541	C/T	—	pathogenic
rs1270831070	X:135,738,543	T/C	—	likely benign
rs2148552915	X:135,738,544	G/T	—	uncertain significance
rs1052924444	X:135,738,547	A/G	—	uncertain significance
rs104894773	X:135,738,552	T/A	missense variant	pathogenic
rs1215852570	X:135,738,553	G/T	—	pathogenic
rs104894772	X:135,738,554	A/G	missense variant	pathogenic
rs746052549	X:135,738,555	G/A	—	likely benign
rs760461092	X:135,738,556	G/A	—	benign
rs1210201609	X:135,738,561	C/G	—	uncertain significance
rs770773481	X:135,738,562	A/C	—	uncertain significance

Showing 100 of 200 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.