IL7R

interleukin 7 receptor

Summary

The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]

Known Variants481 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2172749	5:35,855,264	G/T	—	—
rs7701176	5:35,856,116	T/A	upstream gene variant	—
rs11567685	5:35,856,575	T/C	upstream gene variant	—
rs200076125	5:35,857,081	T/G	—	likely pathogenic
rs1759658430	5:35,857,089	C/T	—	likely benign
rs1759658576	5:35,857,090	T/C	—	uncertain significance
rs1580848036	5:35,857,095	A/G	—	uncertain significance
rs1162451134	5:35,857,099	C/T	—	uncertain significance
rs776642878	5:35,857,105	G/C	—	uncertain significance
rs539820821	5:35,857,111	T/C	—	uncertain significance
rs1759661333	5:35,857,120	T/C	—	uncertain significance
rs138981776	5:35,857,130	C/T	—	likely benign
rs1472882776	5:35,857,132	T/C	—	uncertain significance
rs1759663249	5:35,857,138	G/A	—	uncertain significance
rs1165388643	5:35,857,145	T/C	—	likely benign
rs202007062	5:35,857,155	C/T	—	pathogenic
rs753451294	5:35,857,160	T/A	—	uncertain significance
rs182533042	5:35,857,169	A/G	—	likely benign
rs2531540688	5:35,857,171	T/G	—	likely benign
rs941058125	5:35,857,172	T/C	—	likely benign
rs1038024322	5:35,857,175	A/T	—	uncertain significance
rs1353252	5:35,857,177	G/C	—	benign
rs1353251	5:35,857,207	C/T	—	benign
rs1494561	5:35,857,235	C/G	—	benign
rs1353250	5:35,857,262	A/G	—	benign
rs10213865	5:35,857,850	A/C	regulatory region variant	—
rs11567699	5:35,859,011	C/G	intron variant	—
rs11567701	5:35,859,863	G/A	—	—
rs1494560	5:35,860,637	A/G	—	benign
rs1494559	5:35,860,767	T/C	—	benign
rs1375985403	5:35,860,934	G/T	—	likely benign
rs193922646	5:35,860,936	A/G	—	likely benign
rs1174779472	5:35,860,938	G/A	—	likely benign
rs776246127	5:35,860,942	G/C	—	likely benign
rs1428161702	5:35,860,945	C/T	—	likely benign
rs2531547303	5:35,860,948	C/T	—	likely benign
rs1759786514	5:35,860,951	C/T	—	uncertain significance
rs886060531	5:35,860,952	A/T	—	pathogenic
rs200803157	5:35,860,953	G/A	—	pathogenic
rs370292681	5:35,860,958	C/T	—	likely benign
rs992083666	5:35,860,970	A/G	—	likely benign
rs1036441865	5:35,860,973	A/G	—	likely benign
rs752402991	5:35,860,974	C/A	—	uncertain significance
rs35967524	5:35,860,975	T/A	—	uncertain significance
rs763937095	5:35,860,982	C/T	—	conflicting classifications of pathogenicity
rs1349991152	5:35,860,988	A/T	—	likely benign
rs1759787978	5:35,860,991	C/G	—	uncertain significance
rs1759788196	5:35,860,997	C/G	—	pathogenic
rs373694709	5:35,860,999	A/G	—	uncertain significance
rs1273666609	5:35,861,000	T/C	—	likely benign
rs11567704	5:35,861,003	C/T	—	likely benign
rs1561418803	5:35,861,005	A/C	—	no classification for the single variant
rs200464578	5:35,861,006	G/C	—	uncertain significance
rs2531547515	5:35,861,008	T/G	—	uncertain significance
rs1561418812	5:35,861,012	A/G	—	likely benign
rs2531547543	5:35,861,016	A/G	—	uncertain significance
rs202083738	5:35,861,020	G/T	—	uncertain significance
rs138482569	5:35,861,023	C/T	—	likely benign
rs149235072	5:35,861,024	G/A	—	benign
rs768814999	5:35,861,027	G/T	—	uncertain significance
rs779308643	5:35,861,028	C/T	—	uncertain significance
rs1002396899	5:35,861,031	T/C	—	no classification for the single variant
rs1273552553	5:35,861,035	T/C	—	uncertain significance
rs748495760	5:35,861,036	G/A	—	likely benign
rs1759791006	5:35,861,040	T/C	—	uncertain significance
rs772586152	5:35,861,049	G/A	—	uncertain significance
rs2149895716	5:35,861,054	C/T	—	likely benign
rs1494558	5:35,861,068	T/C	missense variant	benign
rs1580851879	5:35,861,076	C/G	—	uncertain significance
rs147423300	5:35,861,083	T/C	missense variant	pathogenic
rs148001159	5:35,861,085	G/C	missense variant	uncertain significance
rs1580851910	5:35,861,093	G/A	—	pathogenic
rs200044623	5:35,861,094	T/G	splice region variant	pathogenic
rs200937717	5:35,861,099	G/A	—	conflicting classifications of pathogenicity
rs1420903739	5:35,861,101	T/C	—	likely benign
rs376663189	5:35,861,102	G/A	—	likely benign
rs202090343	5:35,861,104	T/C	—	likely benign
rs11567705	5:35,861,152	C/G	—	benign
rs969128	5:35,861,159	A/G	—	benign
rs969129	5:35,861,268	T/G	intron variant	benign
rs78624782	5:35,861,341	C/G	—	benign
rs118137916	5:35,863,538	A/G	intron variant	—
rs7701111	5:35,865,211	C/G	intron variant	—
rs73750058	5:35,867,343	T/C	—	likely benign
rs139835773	5:35,867,388	T/A	—	likely benign
rs2531561159	5:35,867,390	C/G	—	likely benign
rs1318069912	5:35,867,402	C/T	—	likely benign
rs2531561180	5:35,867,403	T/C	—	likely benign
rs755030275	5:35,867,413	C/A	—	uncertain significance
rs2149899076	5:35,867,414	C/T	—	likely benign
rs1345644888	5:35,867,417	C/T	—	likely benign
rs200687605	5:35,867,418	G/A	—	uncertain significance
rs1301073730	5:35,867,419	T/C	—	uncertain significance
rs1354581284	5:35,867,421	G/T	—	likely pathogenic
rs2531561257	5:35,867,422	A/T	—	uncertain significance
rs200475138	5:35,867,425	T/C	—	benign
rs747417170	5:35,867,429	G/A	—	likely benign
rs757797163	5:35,867,431	G/T	—	no classification for the single variant
rs201767916	5:35,867,432	C/T	—	likely benign
rs1759963721	5:35,867,437	A/G	—	uncertain significance

Showing 100 of 481 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.