LEP

leptin

Summary

This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017]

Known Variants117 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4728096	7:127,879,348	T/C	regulatory region variant	—
rs13228377	7:127,879,944	A/G	upstream gene variant	—
rs791620	7:127,881,143	C/A	upstream gene variant	—
rs200487063	7:127,881,299	G/A	—	—
rs201381696	7:127,881,302	A/G	—	—
rs34104384	7:127,881,307	A/T	upstream gene variant	—
rs2167270	7:127,881,349	G/A	5 prime UTR variant	likely benign
rs4731426	7:127,882,070	G/A	—	—
rs12706832	7:127,887,139	A/G	intron variant	—
rs10244329	7:127,888,689	A/T	intron variant	—
rs11763517	7:127,890,062	T/C	intron variant	—
rs28954105	7:127,891,616	G/T	intron variant	—
rs1795280375	7:127,892,058	T/G	—	uncertain significance
rs142904532	7:127,892,086	C/G	—	likely benign
rs201523305	7:127,892,092	C/T	—	conflicting classifications of pathogenicity
rs200092598	7:127,892,093	G/A	—	uncertain significance
rs2485441726	7:127,892,095	A/G	—	likely benign
rs775874401	7:127,892,101	G/C	—	uncertain significance
rs2485441798	7:127,892,116	T/C	—	likely benign
rs148407750	7:127,892,124	A/G	—	conflicting classifications of pathogenicity
rs2116222206	7:127,892,144	C/T	—	pathogenic
rs13306517	7:127,892,146	A/G	—	likely benign
rs372064089	7:127,892,203	C/T	—	likely benign
rs145044661	7:127,892,204	A/G	—	uncertain significance
rs770247453	7:127,892,214	C/T	—	uncertain significance
rs776318015	7:127,892,230	C/T	—	uncertain significance
rs2071045	7:127,892,980	T/A	—	—
rs6956510	7:127,894,240	G/A	—	benign
rs113112089	7:127,894,248	G/T	—	likely benign
rs3828942	7:127,894,305	G/A	intron variant	benign
rs28954110	7:127,894,341	G/C	—	likely benign
rs28954111	7:127,894,350	A/G	—	benign
rs17151914	7:127,894,407	C/T	—	benign
rs138908051	7:127,894,477	G/A	—	conflicting classifications of pathogenicity
rs199647957	7:127,894,486	C/G	—	likely benign
rs200575914	7:127,894,487	G/A	—	pathogenic
rs886061972	7:127,894,493	G/A	—	uncertain significance
rs2485445933	7:127,894,502	C/T	—	pathogenic
rs2485445952	7:127,894,506	G/T	—	uncertain significance
rs140510728	7:127,894,516	C/G	—	likely benign
rs886061973	7:127,894,524	C/A	—	uncertain significance
rs201185232	7:127,894,588	A/G	—	likely benign
rs17151919	7:127,894,592	G/A	missense variant	likely benign
rs724159998	7:127,894,610	G/T	missense variant	pathogenic
rs28954113	7:127,894,621	C/A	—	likely pathogenic
rs104894023	7:127,894,625	C/T	missense variant	pathogenic
rs1800564	7:127,894,640	G/A	—	uncertain significance
rs1313997167	7:127,894,645	G/T	—	likely benign
rs1051206328	7:127,894,662	G/T	—	uncertain significance
rs200202828	7:127,894,679	A/G	—	uncertain significance
rs201058992	7:127,894,684	C/T	—	likely benign
rs199851800	7:127,894,687	G/A	—	likely benign
rs1430332852	7:127,894,690	G/A	—	likely benign
rs1213817089	7:127,894,741	G/A	—	likely benign
rs1795315989	7:127,894,748	G/T	—	uncertain significance
rs1554394014	7:127,894,773	T/C	—	likely pathogenic
rs200819049	7:127,894,804	C/T	—	benign
rs759854910	7:127,894,808	G/C	—	uncertain significance
rs763150646	7:127,894,820	C/T	—	likely benign
rs62481073	7:127,894,849	C/T	—	uncertain significance
rs28954114	7:127,894,850	G/A	—	conflicting classifications of pathogenicity
rs1795318328	7:127,894,873	C/T	—	uncertain significance
rs886061974	7:127,894,885	A/G	—	uncertain significance
rs28954115	7:127,894,966	G/A	—	uncertain significance
rs113405088	7:127,895,020	C/T	—	uncertain significance
rs28954116	7:127,895,045	C/G	—	likely benign
rs191600447	7:127,895,116	C/T	—	uncertain significance
rs200748706	7:127,895,176	G/A	—	uncertain significance
rs28954118	7:127,895,182	A/T	—	uncertain significance
rs183801334	7:127,895,189	G/A	—	uncertain significance
rs17151922	7:127,895,216	G/T	—	likely benign
rs886061975	7:127,895,238	G/C	—	uncertain significance
rs201341056	7:127,895,469	A/C	—	uncertain significance
rs977939827	7:127,895,566	G/C	—	uncertain significance
rs70940808	7:127,895,597	G/C	—	uncertain significance
rs114834517	7:127,895,601	A/G	—	uncertain significance
rs1795330798	7:127,895,778	T/G	—	uncertain significance
rs886061976	7:127,895,808	G/T	—	uncertain significance
rs138289049	7:127,895,826	C/A	—	uncertain significance
rs151325384	7:127,895,830	C/G	—	uncertain significance
rs3750034	7:127,895,940	G/A	—	uncertain significance
rs200556203	7:127,896,001	C/T	—	uncertain significance
rs6966536	7:127,896,059	A/G	—	likely benign
rs144195028	7:127,896,076	A/G	—	uncertain significance
rs200129463	7:127,896,134	G/C	—	uncertain significance
rs1482418354	7:127,896,185	G/T	—	uncertain significance
rs1795337523	7:127,896,238	A/T	—	uncertain significance
rs76601079	7:127,896,244	C/A	—	uncertain significance
rs201701012	7:127,896,365	T/C	—	uncertain significance
rs200802392	7:127,896,395	G/A	—	uncertain significance
rs780861433	7:127,896,453	A/G	—	uncertain significance
rs201065449	7:127,896,456	C/T	—	uncertain significance
rs188857005	7:127,896,494	C/T	—	uncertain significance
rs10954174	7:127,896,536	A/G	3 prime UTR variant	benign
rs201949587	7:127,896,554	G/A	—	uncertain significance
rs1483827030	7:127,896,565	T/C	—	uncertain significance
rs199792491	7:127,896,641	T/C	—	uncertain significance
rs201604408	7:127,896,702	T/G	—	uncertain significance
rs28959471	7:127,896,831	C/A	—	uncertain significance
rs17617757	7:127,896,869	G/A	—	uncertain significance

Showing 100 of 117 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.