LEPR (leptin receptor) - Rat Genome Database

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Gene: LEPR (leptin receptor) Homo sapiens
Analyze
Symbol: LEPR
Name: leptin receptor
RGD ID: 735832
HGNC Page HGNC:6554
Description: Enables identical protein binding activity and leptin receptor activity. Involved in several processes, including angiogenesis; leptin-mediated signaling pathway; and negative regulation of autophagy. Part of receptor complex. Implicated in several diseases, including artery disease (multiple); liver disease (multiple); obesity; obstructive sleep apnea; and type 2 diabetes mellitus. Biomarker of arteriosclerosis; chronic obstructive pulmonary disease; human immunodeficiency virus infectious disease; liver disease (multiple); and sleep apnea.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD295; DKFZp686B1731; huB219; LEP-R; LEPRD; OB receptor; OB-R; OBR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   LDLPS20_H   LDLPS19_H   LDLPS21_H  
Candidate Gene For: BW413_H GLUCO303_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38165,420,652 - 65,641,559 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl165,420,652 - 65,641,559 (+)EnsemblGRCh38hg38GRCh38
GRCh37165,886,335 - 66,107,242 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,658,906 - 65,875,410 (+)NCBINCBI36Build 36hg18NCBI36
Build 34165,598,338 - 65,814,843NCBI
Celera164,176,916 - 64,393,787 (+)NCBICelera
Cytogenetic Map1p31.3NCBI
HuRef163,995,123 - 64,212,195 (+)NCBIHuRef
CHM1_1166,002,606 - 66,219,234 (+)NCBICHM1_1
T2T-CHM13v2.0165,298,629 - 65,519,352 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Albuminuria  (EXP)
Animal Disease Models  (EXP)
arteriosclerosis  (IEP)
bone disease  (EXP)
Breast Neoplasms  (EXP)
cardiomyopathy  (EXP)
Chronic Hepatitis B  (IEP)
Chronic Hepatitis C  (IEP)
chronic kidney disease  (ISO)
chronic obstructive pulmonary disease  (IAGP,IEP)
cognitive disorder  (EXP)
congenital disorder of glycosylation It  (IAGP)
congenital leptin deficiency  (IAGP)
congestive heart failure  (ISO)
coronary artery disease  (IAGP)
Coronary Disease  (IAGP)
Delayed Puberty  (EXP)
diabetes mellitus  (EXP,IAGP)
Diabetic Cardiomyopathies  (EXP)
Diabetic Nephropathies  (EXP)
diabetic neuropathy  (EXP)
Diastolic Dysfunction  (ISO)
diastolic heart failure  (ISO)
dilated cardiomyopathy  (IAGP)
Dyslipidemias  (EXP,ISO)
Experimental Diabetes Mellitus  (EXP)
Experimental Liver Cirrhosis  (ISO)
familial hyperlipidemia  (EXP)
Female Infertility  (EXP)
Fibrosis  (EXP)
genetic disease  (IAGP)
gestational diabetes  (EXP)
Gliosis  (EXP)
glucose intolerance  (EXP,ISO)
granulosa cell tumor  (EXP)
hepatocellular carcinoma  (IAGP)
hepatocellular clear cell carcinoma  (IEP)
Hepatomegaly  (EXP)
human immunodeficiency virus infectious disease  (IEP)
Hyperalgesia  (EXP)
hyperglycemia  (EXP,ISO)
hyperinsulinism  (EXP,ISO)
Hyperphagia  (EXP,ISO)
hypertension  (EXP,IAGP,ISO)
hypogonadism  (EXP)
infertility  (EXP,ISO)
inherited metabolic disorder  (EXP)
Insulin Resistance  (EXP,IAGP,ISO)
intellectual disability  (IAGP)
kidney disease  (EXP)
kidney failure  (EXP)
Knee Osteoarthritis  (IAGP,IEP)
Left Ventricular Hypertrophy  (ISO)
Leptin Receptor Deficiency  (IAGP)
metabolic dysfunction-associated steatohepatitis  (IAGP)
metabolic dysfunction-associated steatotic liver disease  (IAGP,ISS)
Metabolic Syndrome  (ISO)
morbid obesity  (EXP)
Myocardial Ischemia  (IAGP)
Myocardial Reperfusion Injury  (ISO)
Nasal Polyps  (IEP)
nephritis  (EXP)
obesity  (EXP,IAGP,IEA,ISO,ISS)
obstructive sleep apnea  (IAGP)
osteoporosis  (IAGP)
Overweight  (EXP)
pancreas disease  (EXP)
pancreatitis  (ISO)
pituitary gland disease  (EXP)
Pneumococcal Pneumonia  (ISO)
pre-eclampsia  (ISO)
Precocious Puberty  (IAGP)
primary biliary cholangitis  (IEP)
primary immunodeficiency disease  (EXP)
primary ovarian insufficiency  (IAGP)
proteinuria  (EXP,ISO)
pulmonary fibrosis  (ISO)
pulmonary hypertension  (EXP)
renal fibrosis  (ISO)
Respiratory Tract Infections  (EXP)
Right Ventricular Hypertrophy  (EXP)
short bowel syndrome  (ISO)
sleep apnea  (IEP)
Spinal Fractures  (IAGP)
steatotic liver disease  (EXP)
type 2 diabetes mellitus  (EXP,IAGP,ISO,ISS)
Varicose Ulcer  (IEP)
Ventricular Dysfunction, Left  (EXP)
Weight Gain  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(N(omega)-L-arginino)succinic acid  (ISO)
(R)-carnitine  (ISO)
(R)-pantothenic acid  (ISO)
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1-methylnicotinamide  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-hydroxy-4-methylvaleric acid  (ISO)
2-hydroxyisobutyric acid  (ISO)
2-hydroxypropanoic acid  (ISO)
2-methyl-4-chlorophenoxybutyric acid  (ISO)
2-oxoadipic acid  (ISO)
3-methyl-2-oxobutanoic acid  (ISO)
3-methyl-2-oxovaleric acid  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxy-TEMPO  (ISO)
4-phenylbutyric acid  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acetohydrazide  (ISO)
acetylcholine  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (ISO)
allantoin  (ISO)
allethrin  (ISO)
allopurinol  (ISO)
alpha-pinene  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
apocynin  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
astaxanthin  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-D-glucosamine  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromodichloromethane  (ISO)
butanal  (EXP)
butyric acid  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
captopril  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroquine  (ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
choline  (ISO)
chromium atom  (ISO)
chrysene  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
citric acid  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
coumestrol  (EXP)
creatinine  (ISO)
crocidolite asbestos  (ISO)
cyanocob(III)alamin  (ISO)
cycloheximide  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
cyromazine  (ISO)
cytarabine  (EXP)
D-glucose  (ISO)
dactolisib  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
diethyl maleate  (ISO)
dioxygen  (EXP,ISO)
diquat  (ISO)
dobutamine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
epoxiconazole  (ISO)
estrone  (ISO)
ethanol  (ISO)
ethylmalonic acid  (ISO)
fentin chloride  (ISO)
fenvalerate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formic acid  (ISO)
fructose  (ISO)
fumaric acid  (ISO)
furan  (ISO)
galactaric acid  (ISO)
gefitinib  (EXP)
genistein  (EXP)
glucagon  (ISO)
glucose  (ISO)
glutaric acid  (ISO)
glutathione  (ISO)
glycidol  (ISO)
glycine betaine  (ISO)
glyphosate  (EXP)
gypenoside LXXV  (ISO)
harmine  (ISO)
hesperidin  (ISO)
hexanoic acid  (ISO)
high-density lipoprotein cholesterol  (EXP)
hydrazine  (ISO)
hydrochlorothiazide  (ISO)
hydrogen peroxide  (ISO)
indoxyl sulfate  (ISO)
isobutyric acid  (ISO)
isocaproic acid  (ISO)
isoprenaline  (ISO)
isovaleric acid  (ISO)
ketamine  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP)
lipopolysaccharide  (ISO)
LY294002  (ISO)
malonic acid  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
methylmalonic acid  (ISO)
methylmercury chloride  (EXP,ISO)
metyrapone  (ISO)
mifepristone  (ISO)
MK-2206  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
morphine  (ISO)
N-[3-(aminomethyl)benzyl]acetamidine  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-6-pyridone-3-carboxamide  (ISO)
N-methylnicotinate  (ISO)
N-nitrosodiethylamine  (ISO)
naringin  (ISO)
nickel atom  (EXP,ISO)
nickel sulfate  (ISO)
Nicotinamide N-oxide  (ISO)
nicotine  (ISO)
nicotinic acid  (ISO)
orotic acid  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
PCB138  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (ISO)
pirimicarb  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propranolol  (ISO)
pyrethrins  (ISO)
quercetin  (EXP,ISO)
rac-lactic acid  (ISO)
raloxifene  (ISO)
razoxane  (ISO)
resveratrol  (ISO)
riddelliine  (ISO)
rotenone  (ISO)
rutin  (ISO)
SB 203580  (ISO)
SB 431542  (EXP,ISO)
silicon dioxide  (EXP,ISO)
simvastatin  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
succinic acid  (ISO)
sucrose  (ISO)
sulforaphane  (ISO)
superoxide  (ISO)
tacrine  (ISO)
taurine  (ISO)
telmisartan  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
thiram  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
tremolite asbestos  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP,ISO)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
urea  (ISO)
valeric acid  (ISO)
valproic acid  (EXP,ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
ziram  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IMP,ISO)
bone growth  (IEA,ISS)
cell surface receptor signaling pathway  (TAS)
cellular response to acetate  (ISO)
cellular response to butyrate  (ISO)
cholesterol metabolic process  (IEA,ISO)
cytokine-mediated signaling pathway  (IBA,IEA)
eating behavior  (ISO)
energy homeostasis  (IEA,ISS)
energy reserve metabolic process  (TAS)
female pregnancy  (ISO)
glial cell proliferation  (IEA,ISO)
gluconeogenesis  (IEA,ISO)
glucose homeostasis  (IEA,ISS)
glycogen metabolic process  (IEA,ISO)
leptin-mediated signaling pathway  (IDA,IEA,ISO,ISS)
male gonad development  (ISO)
negative regulation of autophagy  (IDA)
negative regulation of eating behavior  (ISO)
negative regulation of gluconeogenesis  (IEA,ISO)
negative regulation of locomotor rhythm  (ISO)
ovulation from ovarian follicle  (ISO)
phagocytosis  (IEA)
positive regulation of cold-induced thermogenesis  (IEA,ISS)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (ISO)
positive regulation of MAPK cascade  (ISO)
positive regulation of protein phosphorylation  (IDA)
regulation of bone remodeling  (IEA,ISS)
regulation of feeding behavior  (IEA,ISS)
regulation of transport  (IDA)
response to dexamethasone  (ISO)
response to estrogen  (ISO)
response to hypoxia  (ISO)
response to leptin  (IEA,ISO,ISS)
response to lipid  (ISO)
response to nicotine  (ISO)
response to nutrient  (ISO)
sexual reproduction  (IEA,ISS)
T cell differentiation  (IEA,ISS)
transport across blood-brain barrier  (NAS)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal eating behavior  (IAGP)
Abnormal hypothalamus morphology  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Accelerated skeletal maturation  (IAGP)
Aggressive behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Class II obesity  (IAGP)
Decreased proportion of CD4-positive helper T cells  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Decreased serum estradiol  (IAGP)
Decreased serum leptin  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Decreased T cell activation  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Diabetes mellitus  (IAGP)
Emotional lability  (IAGP)
Gynecomastia  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatic steatosis  (IAGP)
Hypercholesterolemia  (IAGP)
Hyperglycemia  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hyperinsulinemia  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypoplasia of the ovary  (IAGP)
Immune dysregulation  (IAGP)
Increased adipose tissue  (IAGP)
Increased body mass index  (IAGP)
Increased LDL cholesterol concentration  (IAGP)
Increased serum leptin  (IAGP)
Increased waist to hip ratio  (IAGP)
Infantile onset  (IAGP)
Insulin resistance  (IAGP)
Insulin-resistant diabetes mellitus  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Obesity  (IAGP)
Orthostatic hypotension due to autonomic dysfunction  (IAGP)
Pituitary hypothyroidism  (IAGP)
Polyphagia  (IAGP)
Premature ovarian insufficiency  (IAGP)
Primary amenorrhea  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Short stature  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Nicotinamide for the treatment of heart failure with preserved ejection fraction. Abdellatif M, etal., Sci Transl Med. 2021 Feb 10;13(580):eabd7064. doi: 10.1126/scitranslmed.abd7064.
2. Progression of pancreatitis prior to diabetes onset in WBN/Kob-Lepr(fa) rats. Akimoto T, etal., J Vet Med Sci. 2012 Jan;74(1):65-70. Epub 2011 Aug 12.
3. Lys656Asn polymorphism of leptin receptor, leptin levels and insulin resistance in patients with non alcoholic fatty liver disease. Aller R, etal., Eur Rev Med Pharmacol Sci. 2012 Mar;16(3):335-41.
4. Leptin Receptor Gene Polymorphisms and the Risk of Non-Alcoholic Fatty Liver Disease and Coronary Atherosclerosis in the Chinese Han Population. An BQ, etal., Hepat Mon. 2016 Apr 27;16(4):e35055. doi: 10.5812/hepatmon.35055. eCollection 2016 Apr.
5. Characterization of changes in leptin and leptin receptors in a rat model of preeclampsia. Anderson CM, etal., Am J Obstet Gynecol. 2005 Jul;193(1):267-72.
6. Preliminary Characterization of a Leptin Receptor Knockout Rat Created by CRISPR/Cas9 System. Bao D, etal., Sci Rep. 2015 Nov 5;5:15942. doi: 10.1038/srep15942.
7. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
8. The genetics of human obesity. Bell CG, etal., Nat Rev Genet. 2005 Mar;6(3):221-34.
9. Association between variants in the genes for leptin, leptin receptor, and proopiomelanocortin with chronic heart failure in the Czech population. Bienertova-Vasku JA, etal., Heart Vessels. 2009 Mar;24(2):131-7. Epub 2009 Apr 1.
10. Generation of obese rat model by transcription activator-like effector nucleases targeting the leptin receptor gene. Chen Y, etal., Sci China Life Sci. 2017 Feb;60(2):152-157. doi: 10.1007/s11427-016-5049-y. Epub 2016 May 25.
11. Complete rescue of obesity, diabetes, and infertility in db/db mice by neuron-specific LEPR-B transgenes. de Luca C, etal., J Clin Invest. 2005 Dec;115(12):3484-93. Epub 2005 Nov 10.
12. Influence of Lys656Asn polymorphism of leptin receptor gene on insulin resistance in patients with diabetes mellitus type 2. de Luis DA, etal., Diabetes Res Clin Pract. 2008 Sep;81(3):e9-e11. Epub 2008 Jul 15.
13. Influence of Lys656Asn polymorphism of the leptin receptor gene on insulin resistance in nondiabetic obese patients. de Luis DA, etal., J Diabetes Complications. 2008 May-Jun;22(3):199-204. Epub 2008 Apr 16.
14. Leptin receptor blockade reduces intrahepatic vascular resistance and portal pressure in an experimental model of rat liver cirrhosis. Delgado MG, etal., Am J Physiol Gastrointest Liver Physiol. 2013 Oct 1;305(7):G496-502. doi: 10.1152/ajpgi.00336.2012. Epub 2013 Jul 25.
15. High resolution molecular and histological analysis of renal disease progression in ZSF1 fa/faCP rats, a model of type 2 diabetic nephropathy. Dower K, etal., PLoS One. 2017 Jul 26;12(7):e0181861. doi: 10.1371/journal.pone.0181861. eCollection 2017.
16. Leptin receptor genotype at Gln223Arg is associated with body composition, BMD, and vertebral fracture in postmenopausal Danish women. Fairbrother UL, etal., J Bone Miner Res. 2007 Apr;22(4):544-50.
17. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. Farooqi IS, etal., N Engl J Med. 2007 Jan 18;356(3):237-47.
18. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
19. Genetic variations in the leptin and leptin receptor genes are associated with type 2 diabetes mellitus and metabolic traits in the Korean female population. Han HR, etal., Clin Genet. 2008 Aug;74(2):105-15. Epub 2008 Jun 28.
20. Leptin receptor polymorphisms and lung function decline in COPD. Hansel NN, etal., Eur Respir J. 2009 Jul;34(1):103-10. Epub 2009 Feb 5.
21. Characterization of a new animal model of metabolic syndrome: the DahlS.Z-Lepr(fa)/Lepr(fa) rat. Hattori T, etal., Nutr Diabetes. 2011 Jan 31;1:e1. doi: 10.1038/nutd.2010.1.
22. Attenuation of leptin and insulin signaling by SOCS proteins. Howard JK and Flier JS, Trends Endocrinol Metab. 2006 Nov;17(9):365-71. Epub 2006 Sep 28.
23. Substitution at codon 269 (glutamine --> proline) of the leptin receptor (OB-R) cDNA is the only mutation found in the Zucker fatty (fa/fa) rat. Iida M, etal., Biochem Biophys Res Commun 1996 Jul 16;224(2):597-604.
24. Leptin Promotes Fibroproliferative ARDS by Inhibiting Peroxisome Proliferator-activated Receptor-{gamma} Jain M, etal., Am J Respir Crit Care Med. 2011 Feb 11.
25. Leptin signaling, adiposity, and energy balance. Jequier E Ann N Y Acad Sci 2002 Jun;967:379-88.
26. Endogenous leptin receptor signaling in the medial nucleus tractus solitarius affects meal size and potentiates intestinal satiation signals. Kanoski SE, etal., Am J Physiol Endocrinol Metab. 2012 Aug 15;303(4):E496-503. doi: 10.1152/ajpendo.00205.2012. Epub 2012 Jun 12.
27. Diet-induced obesity in mice reduces the maintenance of influenza-specific CD8+ memory T cells. Karlsson EA, etal., J Nutr. 2010 Sep;140(9):1691-7. Epub 2010 Jun 30.
28. Genes unlinked to the leptin receptor influence urinary albumin excretion in obese Zucker rats. Kim K, etal., Physiol Genomics. 2010 Feb 16.
29. Immunohistochemical analysis of tau phosphorylation and astroglial activation with enhanced leptin receptor expression in diet-induced obesity mouse hippocampus. Koga S, etal., Neurosci Lett. 2014 Jun 13;571:11-6. doi: 10.1016/j.neulet.2014.04.028. Epub 2014 Apr 28.
30. Role of leptin receptor (LEPR) gene polymorphisms and haplotypes in susceptibility to hepatocellular carcinoma in subjects with chronic hepatitis B virus infection. Li Z, etal., Mol Diagn Ther. 2012 Dec;16(6):383-8. doi: 10.1007/s40291-012-0008-1.
31. Polymorphism of human leptin receptor gene is associated with type 2 diabetic patients complicated with non-alcoholic fatty liver disease in China. Lu H, etal., J Gastroenterol Hepatol. 2009 Feb;24(2):228-32. Epub 2008 Aug 17.
32. [Association of single nucleotide polymorphisms (SNPs) in leptin receptor gene with knee osteoarthritis in the Ningxia Hui population]. Ma XJ, etal., Yi Chuan. 2013 Mar;35(3):359-64.
33. Disruption of leptin receptor-STAT3 signaling enhances leukotriene production and pulmonary host defense against pneumococcal pneumonia. Mancuso P, etal., J Immunol. 2011 Jan 15;186(2):1081-90. Epub 2010 Dec 10.
34. Soluble leptin receptor and insulin resistance as determinant of sleep apnea. Manzella D, etal., Int J Obes Relat Metab Disord. 2002 Mar;26(3):370-5.
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41. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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44. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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50. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
51. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
52. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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Additional References at PubMed
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Genomics

Comparative Map Data
LEPR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38165,420,652 - 65,641,559 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl165,420,652 - 65,641,559 (+)EnsemblGRCh38hg38GRCh38
GRCh37165,886,335 - 66,107,242 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,658,906 - 65,875,410 (+)NCBINCBI36Build 36hg18NCBI36
Build 34165,598,338 - 65,814,843NCBI
Celera164,176,916 - 64,393,787 (+)NCBICelera
Cytogenetic Map1p31.3NCBI
HuRef163,995,123 - 64,212,195 (+)NCBIHuRef
CHM1_1166,002,606 - 66,219,234 (+)NCBICHM1_1
T2T-CHM13v2.0165,298,629 - 65,519,352 (+)NCBIT2T-CHM13v2.0
Lepr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394101,574,393 - 101,676,375 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4101,574,601 - 101,672,549 (+)EnsemblGRCm39 Ensembl
GRCm384101,717,137 - 101,815,352 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4101,717,404 - 101,815,352 (+)EnsemblGRCm38mm10GRCm38
MGSCv374101,390,012 - 101,487,959 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364101,215,371 - 101,313,237 (+)NCBIMGSCv36mm8
Celera4100,061,452 - 100,155,523 (+)NCBICelera
Cytogenetic Map4C6NCBI
cM Map446.96NCBI
Lepr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85121,409,735 - 121,593,201 (+)NCBIGRCr8
mRatBN7.25116,294,409 - 116,477,904 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5116,289,823 - 116,475,908 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5118,847,763 - 119,019,098 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05120,573,106 - 120,744,441 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05120,624,429 - 120,795,760 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05120,503,475 - 120,682,281 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5120,564,645 - 120,682,221 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05124,380,327 - 124,525,200 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.05124,555,678 - 124,556,585 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45122,320,075 - 122,503,449NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5114,817,255 - 114,982,861 (+)NCBICelera
RH 3.4 Map5 RGD
Cytogenetic Map5q33NCBI
Lepr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542325,111,266 - 25,185,407 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542325,108,897 - 25,185,315 (-)NCBIChiLan1.0ChiLan1.0
LEPR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21161,226,191 - 161,441,177 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11160,386,446 - 160,592,001 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0164,772,612 - 64,881,886 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1166,651,994 - 66,764,768 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl166,693,926 - 66,764,768 (+)Ensemblpanpan1.1panPan2
LEPR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1544,684,118 - 44,775,626 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl544,688,109 - 44,775,636 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha544,745,719 - 44,810,649 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0544,870,825 - 44,963,640 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl544,875,468 - 44,963,183 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1544,840,852 - 44,906,048 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0544,786,008 - 44,851,055 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0545,029,763 - 45,094,688 (-)NCBIUU_Cfam_GSD_1.0
Lepr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505878,634,973 - 78,718,201 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365915,774,326 - 5,836,444 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365915,771,371 - 5,846,177 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LEPR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6146,801,954 - 146,895,995 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16146,802,297 - 146,896,152 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LEPR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12067,454,205 - 67,567,524 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2067,454,334 - 67,524,229 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603349,988,602 - 50,125,048 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lepr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474229,223,392 - 29,337,049 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474229,221,742 - 29,313,273 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LEPR
322 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002303.6(LEPR):c.2880C>G (p.Asn960Lys) single nucleotide variant Obesity [RCV000030138] Chr1:65636397 [GRCh38]
Chr1:66102080 [GRCh37]
Chr1:1p31.3		 likely pathogenic
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) single nucleotide variant LEPR-related disorder [RCV004541026]|Monogenic Non-Syndromic Obesity [RCV000365066]|Obesity [RCV000030139]|Obesity due to leptin receptor gene deficiency [RCV000310429]|not provided [RCV000880973]|not specified [RCV001818191] Chr1:65636934 [GRCh38]
Chr1:66102617 [GRCh37]
Chr1:1p31.3		 benign|likely benign|uncertain significance
NM_002303.6(LEPR):c.3423C>T (p.Tyr1141=) single nucleotide variant Obesity [RCV000030140]|not provided [RCV002513256] Chr1:65636940 [GRCh38]
Chr1:66102623 [GRCh37]
Chr1:1p31.3		 benign|likely benign
NM_002303.6(LEPR):c.668A>G (p.Gln223Arg) single nucleotide variant LEPTIN RECEPTOR POLYMORPHISM [RCV000009047]|Monogenic Non-Syndromic Obesity [RCV000281795]|Obesity due to leptin receptor gene deficiency [RCV000348520]|not provided [RCV001668124]|not specified [RCV000518727] Chr1:65592830 [GRCh38]
Chr1:66058513 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2597+1G>A single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV000009048] Chr1:65621459 [GRCh38]
Chr1:66087142 [GRCh37]
Chr1:1p31.3		 pathogenic
NM_002303.6(LEPR):c.326A>G (p.Lys109Arg) single nucleotide variant LEPTIN RECEPTOR POLYMORPHISM [RCV000009049]|Monogenic Non-Syndromic Obesity [RCV000366432]|Obesity due to leptin receptor gene deficiency [RCV000309499]|not provided [RCV001707508]|not specified [RCV000517666] Chr1:65570758 [GRCh38]
Chr1:66036441 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) single nucleotide variant LEPTIN RECEPTOR POLYMORPHISM [RCV000009050]|Monogenic Non-Syndromic Obesity [RCV000266874]|Obesity due to leptin receptor gene deficiency [RCV000321944]|not provided [RCV000712216]|not specified [RCV000730960] Chr1:65610269 [GRCh38]
Chr1:66075952 [GRCh37]
Chr1:1p31.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002303.6(LEPR):c.3078T>C (p.Asn1026=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000304846]|Obesity due to leptin receptor gene deficiency [RCV000397677]|not provided [RCV002059499] Chr1:65636595 [GRCh38]
Chr1:66102278 [GRCh37]
Chr1:1p31.3		 benign|likely benign|uncertain significance
NM_001003679.3(LEPR):c.-20-42052G>T single nucleotide variant Lung cancer [RCV000090903] Chr1:65523494 [GRCh38]
Chr1:65989177 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_001003679.3(LEPR):c.849+446C>T single nucleotide variant Lung cancer [RCV000090904] Chr1:65597039 [GRCh38]
Chr1:66062722 [GRCh37]
Chr1:1p31.3		 uncertain significance
GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1 copy number loss See cases [RCV000050703] Chr1:60473800..70944955 [GRCh38]
Chr1:60939472..71410638 [GRCh37]
Chr1:60712060..71183226 [NCBI36]
Chr1:1p32.1-31.1		 pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1		 pathogenic
GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3 copy number gain See cases [RCV000051824] Chr1:61922650..66445757 [GRCh38]
Chr1:62388322..66911440 [GRCh37]
Chr1:62160910..66684028 [NCBI36]
Chr1:1p31.3		 pathogenic
GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1 copy number loss See cases [RCV000053841] Chr1:57350574..71325924 [GRCh38]
Chr1:57816246..71791607 [GRCh37]
Chr1:57588834..71564195 [NCBI36]
Chr1:1p32.2-31.1		 pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 copy number loss See cases [RCV000053842] Chr1:59632500..76730877 [GRCh38]
Chr1:60098172..77196562 [GRCh37]
Chr1:59870760..76969150 [NCBI36]
Chr1:1p32.1-31.1		 pathogenic
NM_001003679.3(LEPR):c.595C>T (p.Pro199Ser) single nucleotide variant Malignant melanoma [RCV000064866] Chr1:65592757 [GRCh38]
Chr1:66058440 [GRCh37]
Chr1:65831028 [NCBI36]
Chr1:1p31.3		 not provided
NM_001003679.3(LEPR):c.1801C>T (p.Pro601Ser) single nucleotide variant Malignant melanoma [RCV000064867] Chr1:65609995 [GRCh38]
Chr1:66075678 [GRCh37]
Chr1:65848266 [NCBI36]
Chr1:1p31.3		 not provided
NM_002303.5(LEPR):c.3302C>T (p.Ser1101Leu) single nucleotide variant Malignant melanoma [RCV000064868] Chr1:65636819 [GRCh38]
Chr1:66102502 [GRCh37]
Chr1:65875090 [NCBI36]
Chr1:1p31.3		 not provided
NM_002303.6(LEPR):c.908C>T (p.Ser303Leu) single nucleotide variant LEPR-related disorder [RCV004531675] Chr1:65598718 [GRCh38]
Chr1:66064401 [GRCh37]
Chr1:65836989 [NCBI36]
Chr1:1p31.3		 uncertain significance|not provided
NM_002303.6(LEPR):c.1139A>G (p.Gln380Arg) single nucleotide variant Monogenic diabetes [RCV000664072] Chr1:65601536 [GRCh38]
Chr1:66067219 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2728C>T (p.Pro910Ser) single nucleotide variant Peripheral precocious puberty [RCV001374431] Chr1:65636245 [GRCh38]
Chr1:66101928 [GRCh37]
Chr1:1p31.3		 uncertain significance
GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1 copy number loss See cases [RCV000133710] Chr1:59760856..71578052 [GRCh38]
Chr1:60226528..72043735 [GRCh37]
Chr1:59999116..71816323 [NCBI36]
Chr1:1p32.1-31.1		 pathogenic
GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1 copy number loss See cases [RCV000134142] Chr1:58819605..69107108 [GRCh38]
Chr1:59285277..69572791 [GRCh37]
Chr1:59057865..69345379 [NCBI36]
Chr1:1p32.1-31.2		 pathogenic
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3		 pathogenic
GRCh38/hg38 1p31.3(chr1:65395820-65473801)x3 copy number gain See cases [RCV000140074] Chr1:65395820..65473801 [GRCh38]
Chr1:65861503..65939484 [GRCh37]
Chr1:65634091..65712072 [NCBI36]
Chr1:1p31.3		 likely benign
GRCh38/hg38 1p31.3(chr1:65473801-65541817)x3 copy number gain See cases [RCV000140154] Chr1:65473801..65541817 [GRCh38]
Chr1:65939484..66007500 [GRCh37]
Chr1:65712072..65780088 [NCBI36]
Chr1:1p31.3		 benign
GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1 copy number loss See cases [RCV000140906] Chr1:64944525..67592003 [GRCh38]
Chr1:65410208..68057686 [GRCh37]
Chr1:65182796..67830274 [NCBI36]
Chr1:1p31.3		 likely pathogenic|uncertain significance
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 copy number gain See cases [RCV000141758] Chr1:52787503..67339873 [GRCh38]
Chr1:53253175..67805556 [GRCh37]
Chr1:53025763..67578144 [NCBI36]
Chr1:1p32.3-31.3		 likely pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3 copy number gain See cases [RCV000142452] Chr1:64072618..75518432 [GRCh38]
Chr1:64538290..75984117 [GRCh37]
Chr1:64310878..75756705 [NCBI36]
Chr1:1p31.3-31.1		 pathogenic
NM_002303.6(LEPR):c.2970C>G (p.Ile990Met) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000387680]|Obesity due to leptin receptor gene deficiency [RCV000293350] Chr1:65636487 [GRCh38]
Chr1:66102170 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1411C>A (p.Leu471Ile) single nucleotide variant Inborn genetic diseases [RCV004021453]|LEPR-related disorder [RCV004537687]|Monogenic Non-Syndromic Obesity [RCV000297351]|Obesity due to leptin receptor gene deficiency [RCV000361527] Chr1:65605045 [GRCh38]
Chr1:66070728 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1166G>A (p.Ser389Asn) single nucleotide variant LEPR-related disorder [RCV004537686]|Monogenic Non-Syndromic Obesity [RCV000301046]|Obesity due to leptin receptor gene deficiency [RCV000395671] Chr1:65601563 [GRCh38]
Chr1:66067246 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) single nucleotide variant LEPR-related disorder [RCV004544496]|Monogenic Non-Syndromic Obesity [RCV000264920]|Monogenic diabetes [RCV001174405]|Obesity due to leptin receptor gene deficiency [RCV000322392]|not provided [RCV002059497] Chr1:65572326 [GRCh38]
Chr1:66038009 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.2698A>G (p.Ile900Val) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000333192]|Monogenic diabetes [RCV000445533]|Obesity due to leptin receptor gene deficiency [RCV000287543]|not provided [RCV002059498] Chr1:65636215 [GRCh38]
Chr1:66101898 [GRCh37]
Chr1:1p31.3		 benign|uncertain significance
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000288988]|Obesity due to leptin receptor gene deficiency [RCV000346307]|not provided [RCV000712215]|not specified [RCV001699346] Chr1:65601426 [GRCh38]
Chr1:66067109 [GRCh37]
Chr1:1p31.3		 benign|likely benign
NM_002303.6(LEPR):c.3057G>A (p.Pro1019=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000335664]|Obesity due to leptin receptor gene deficiency [RCV000280669]|not provided [RCV001689982]|not specified [RCV000516559] Chr1:65636574 [GRCh38]
Chr1:66102257 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr) single nucleotide variant LEPR-related disorder [RCV004544497]|Monogenic Non-Syndromic Obesity [RCV000325519]|Monogenic diabetes [RCV000445411]|Obesity due to leptin receptor gene deficiency [RCV000270437]|not provided [RCV003546503]|not specified [RCV001820859] Chr1:65636996 [GRCh38]
Chr1:66102679 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.536G>A (p.Gly179Asp) single nucleotide variant Inborn genetic diseases [RCV004021452]|LEPR-related disorder [RCV004537683]|Monogenic Non-Syndromic Obesity [RCV000259292]|Obesity due to leptin receptor gene deficiency [RCV000379673]|not provided [RCV003727648] Chr1:65592698 [GRCh38]
Chr1:66058381 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.-20-15A>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000363116]|Obesity due to leptin receptor gene deficiency [RCV000270960] Chr1:65565531 [GRCh38]
Chr1:66031214 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2103C>T (p.Phe701=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000357850]|Obesity due to leptin receptor gene deficiency [RCV000272541] Chr1:65616115 [GRCh38]
Chr1:66081798 [GRCh37]
Chr1:1p31.3		 uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_002303.6(LEPR):c.2397T>G (p.Asp799Glu) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000327637]|Obesity due to leptin receptor gene deficiency [RCV000382241] Chr1:65619929 [GRCh38]
Chr1:66085612 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.921G>C (p.Gln307His) single nucleotide variant LEPR-related disorder [RCV004537685]|Monogenic Non-Syndromic Obesity [RCV000395676]|Obesity due to leptin receptor gene deficiency [RCV000352064]|not provided [RCV002520508] Chr1:65598731 [GRCh38]
Chr1:66064414 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr) single nucleotide variant LEPR-related disorder [RCV004529482]|Monogenic Non-Syndromic Obesity [RCV000355839]|Obesity due to leptin receptor gene deficiency [RCV000400832]|not provided [RCV001701844] Chr1:65601643 [GRCh38]
Chr1:66067326 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000405881]|Monogenic diabetes [RCV000664073]|Obesity due to leptin receptor gene deficiency [RCV000348481]|not provided [RCV001699347]|not specified [RCV001702416] Chr1:65636536 [GRCh38]
Chr1:66102219 [GRCh37]
Chr1:1p31.3		 benign|likely benign|uncertain significance
NM_002303.6(LEPR):c.*201C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000373522]|Obesity due to leptin receptor gene deficiency [RCV000279060] Chr1:65637216 [GRCh38]
Chr1:66102899 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.*403T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000283917]|Obesity due to leptin receptor gene deficiency [RCV000339004] Chr1:65637418 [GRCh38]
Chr1:66103101 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_017526.5(LEPROT):c.-49C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000280221]|Obesity due to leptin receptor gene deficiency [RCV000372396] Chr1:65420676 [GRCh38]
Chr1:65886359 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.*60_*61insCTTTA insertion Monogenic Non-Syndromic Obesity [RCV000276727]|Obesity due to leptin receptor gene deficiency [RCV000371311]|not provided [RCV001683195] Chr1:65637072..65637073 [GRCh38]
Chr1:66102755..66102756 [GRCh37]
Chr1:1p31.3		 benign|likely benign
NM_017526.5(LEPROT):c.21C>T (p.Leu7=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000397005]|Obesity due to leptin receptor gene deficiency [RCV000315592]|not provided [RCV000953426] Chr1:65425307 [GRCh38]
Chr1:65890990 [GRCh37]
Chr1:1p31.3		 benign|likely benign|uncertain significance
NM_017526.5(LEPROT):c.-10T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000396999]|Obesity due to leptin receptor gene deficiency [RCV000337663] Chr1:65420715 [GRCh38]
Chr1:65886398 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.*346CA[8] microsatellite Monogenic Non-Syndromic Obesity [RCV000342499]|Obesity due to leptin receptor gene deficiency [RCV000378428] Chr1:65637360..65637361 [GRCh38]
Chr1:66103043..66103044 [GRCh37]
Chr1:1p31.3		 benign
NM_017526.5(LEPROT):c.-8C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000311543]|Obesity due to leptin receptor gene deficiency [RCV000350019] Chr1:65420717 [GRCh38]
Chr1:65886400 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.*188A>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000318844]|Obesity due to leptin receptor gene deficiency [RCV000282446] Chr1:65637203 [GRCh38]
Chr1:66102886 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.666C>G (p.Phe222Leu) single nucleotide variant Inborn genetic diseases [RCV002520507]|LEPR-related disorder [RCV004537684]|Monogenic Non-Syndromic Obesity [RCV000373738]|Obesity due to leptin receptor gene deficiency [RCV000316836] Chr1:65592828 [GRCh38]
Chr1:66058511 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.*112T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000331897]|Obesity due to leptin receptor gene deficiency [RCV000386391] Chr1:65637127 [GRCh38]
Chr1:66102810 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.716C>T (p.Pro239Leu) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000386595]|Obesity due to leptin receptor gene deficiency [RCV000294717] Chr1:65596460 [GRCh38]
Chr1:66062143 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.3114A>G (p.Ile1038Met) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000359598]|Obesity due to leptin receptor gene deficiency [RCV000398438] Chr1:65636631 [GRCh38]
Chr1:66102314 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2171T>C (p.Val724Ala) single nucleotide variant Inborn genetic diseases [RCV004032061]|LEPR-related disorder [RCV004536150]|Obesity due to leptin receptor gene deficiency [RCV001100148]|not provided [RCV002556025] Chr1:65616183 [GRCh38]
Chr1:66081866 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.2185T>G (p.Leu729Val) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001100149] Chr1:65616197 [GRCh38]
Chr1:66081880 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2260G>A (p.Val754Met) single nucleotide variant LEPR-related disorder [RCV004536151]|Obesity due to leptin receptor gene deficiency [RCV001100150]|not provided [RCV001856359] Chr1:65618011 [GRCh38]
Chr1:66083694 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.957G>C (p.Trp319Cys) single nucleotide variant not provided [RCV000730487] Chr1:65598767 [GRCh38]
Chr1:66064450 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.299C>G (p.Ser100Cys) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001100043] Chr1:65570731 [GRCh38]
Chr1:66036414 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2296A>T (p.Lys766Ter) single nucleotide variant not provided [RCV000732515] Chr1:65618047 [GRCh38]
Chr1:66083730 [GRCh37]
Chr1:1p31.3		 pathogenic
NM_002303.6(LEPR):c.1226C>A (p.Ala409Glu) single nucleotide variant not provided [RCV000732516] Chr1:65601623 [GRCh38]
Chr1:66067306 [GRCh37]
Chr1:1p31.3		 likely pathogenic
NM_002303.6(LEPR):c.479del (p.His160fs) deletion not provided [RCV000732532] Chr1:65572434 [GRCh38]
Chr1:66038117 [GRCh37]
Chr1:1p31.3		 pathogenic
GRCh37/hg19 1p31.3(chr1:65881068-65939484)x3 copy number gain See cases [RCV000446481] Chr1:65881068..65939484 [GRCh37]
Chr1:1p31.3		 benign
GRCh37/hg19 1p31.3-31.1(chr1:63252828-77402595)x1 copy number loss See cases [RCV000446378] Chr1:63252828..77402595 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p31.3(chr1:61785602-67430956)x3 copy number gain See cases [RCV000446769] Chr1:61785602..67430956 [GRCh37]
Chr1:1p31.3		 pathogenic
NM_002303.6(LEPR):c.1055G>T (p.Cys352Phe) single nucleotide variant LEPR-related disorder [RCV004539919]|Monogenic diabetes [RCV000445404] Chr1:65601452 [GRCh38]
Chr1:66067135 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2096C>T (p.Thr699Met) single nucleotide variant Monogenic diabetes [RCV000445476]|Obesity due to leptin receptor gene deficiency [RCV001100147]|not provided [RCV001675893] Chr1:65616108 [GRCh38]
Chr1:66081791 [GRCh37]
Chr1:1p31.3		 benign|likely benign
NM_002303.6(LEPR):c.1968G>T (p.Lys656Asn) single nucleotide variant Monogenic diabetes [RCV000445542] Chr1:65610269 [GRCh38]
Chr1:66075952 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.430G>T (p.Val144Leu) single nucleotide variant LEPR-related disorder [RCV004533138]|Monogenic diabetes [RCV000445543] Chr1:65572385 [GRCh38]
Chr1:66038068 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.93G>A (p.Trp31Ter) single nucleotide variant not provided [RCV000479260] Chr1:65570525 [GRCh38]
Chr1:66036208 [GRCh37]
Chr1:1p31.3		 pathogenic|likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_002303.6(LEPR):c.3253A>G (p.Ile1085Val) single nucleotide variant not specified [RCV000499579] Chr1:65636770 [GRCh38]
Chr1:66102453 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.3495_3496del (p.Ter1166IleextTer?) microsatellite not provided [RCV002524221]|not specified [RCV000500700] Chr1:65637009..65637010 [GRCh38]
Chr1:66102692..66102693 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.3069T>C (p.Ser1023=) single nucleotide variant not specified [RCV000502978] Chr1:65636586 [GRCh38]
Chr1:66102269 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1785T>G (p.Ser595=) single nucleotide variant not specified [RCV000503112] Chr1:65609979 [GRCh38]
Chr1:66075662 [GRCh37]
Chr1:1p31.3		 likely benign
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3		 pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_002303.6(LEPR):c.2839G>A (p.Asp947Asn) single nucleotide variant Inborn genetic diseases [RCV003282305] Chr1:65636356 [GRCh38]
Chr1:66102039 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.370+16G>T single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV000576779]|not provided [RCV001675935]|not specified [RCV001701052] Chr1:65570818 [GRCh38]
Chr1:66036501 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.128C>G (p.Thr43Ser) single nucleotide variant Inborn genetic diseases [RCV003262555] Chr1:65570560 [GRCh38]
Chr1:66036243 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2542G>A (p.Val848Ile) single nucleotide variant Inborn genetic diseases [RCV003269939] Chr1:65621403 [GRCh38]
Chr1:66087086 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.3268_3269dup (p.Ser1090fs) microsatellite Obesity due to leptin receptor gene deficiency [RCV000626385] Chr1:65636776..65636777 [GRCh38]
Chr1:66102459..66102460 [GRCh37]
Chr1:1p31.3		 pathogenic
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
NM_002303.6(LEPR):c.3247A>G (p.Thr1083Ala) single nucleotide variant LEPR-related disorder [RCV004544923]|Monogenic diabetes [RCV000664074]|not provided [RCV003698806] Chr1:65636764 [GRCh38]
Chr1:66102447 [GRCh37]
Chr1:1p31.3		 benign|likely benign|uncertain significance
GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1 copy number loss not provided [RCV000684581] Chr1:64848307..67436595 [GRCh37]
Chr1:1p31.3		 uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3 copy number gain not provided [RCV000684577] Chr1:62434799..71656180 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
NM_002303.6(LEPR):c.40+239_40+240insAC insertion not provided [RCV001546431] Chr1:65565843..65565844 [GRCh38]
Chr1:66031526..66031527 [GRCh37]
Chr1:1p31.3		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p31.3(chr1:65854556-65957141)x3 copy number gain not provided [RCV000749016] Chr1:65854556..65957141 [GRCh37]
Chr1:1p31.3		 benign
GRCh37/hg19 1p31.3(chr1:65854556-65966503)x3 copy number gain not provided [RCV000749017] Chr1:65854556..65966503 [GRCh37]
Chr1:1p31.3		 benign
GRCh37/hg19 1p31.3(chr1:65858088-65952781)x3 copy number gain not provided [RCV000749018] Chr1:65858088..65952781 [GRCh37]
Chr1:1p31.3		 benign
GRCh37/hg19 1p31.3(chr1:66041059-66046117)x1 copy number loss not provided [RCV000749019] Chr1:66041059..66046117 [GRCh37]
Chr1:1p31.3		 benign
GRCh37/hg19 1p31.3(chr1:66054713-66146306)x1 copy number loss not provided [RCV000749020] Chr1:66054713..66146306 [GRCh37]
Chr1:1p31.3		 benign
NM_017526.5(LEPROT):c.92+122T>A single nucleotide variant not provided [RCV001610962] Chr1:65425500 [GRCh38]
Chr1:65891183 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2673+287A>G single nucleotide variant not provided [RCV001611615] Chr1:65623268 [GRCh38]
Chr1:66088951 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.464A>C (p.Tyr155Ser) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV000760143] Chr1:65572419 [GRCh38]
Chr1:66038102 [GRCh37]
Chr1:1p31.3		 pathogenic
NM_002303.6(LEPR):c.2674-3221T>C single nucleotide variant not provided [RCV001645837] Chr1:65632970 [GRCh38]
Chr1:66098653 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.1404-119G>A single nucleotide variant not provided [RCV001667187] Chr1:65604919 [GRCh38]
Chr1:66070602 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.1652T>A (p.Ile551Asn) single nucleotide variant Inborn genetic diseases [RCV002549789]|not provided [RCV000992269] Chr1:65608801 [GRCh38]
Chr1:66074484 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_017526.5(LEPROT):c.-50C>A single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001096529] Chr1:65420675 [GRCh38]
Chr1:65886358 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1030G>A (p.Val344Ile) single nucleotide variant LEPR-related disorder [RCV004536145]|Obesity due to leptin receptor gene deficiency [RCV001096633]|not provided [RCV003117748] Chr1:65601427 [GRCh38]
Chr1:66067110 [GRCh37]
Chr1:1p31.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002303.6(LEPR):c.3437A>T (p.Gln1146Leu) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001096726] Chr1:65636954 [GRCh38]
Chr1:66102637 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.*99A>G single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001096728] Chr1:65637114 [GRCh38]
Chr1:66102797 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2212+228A>G single nucleotide variant not provided [RCV001643672] Chr1:65616452 [GRCh38]
Chr1:66082135 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2674-3175T>G single nucleotide variant not provided [RCV001568719] Chr1:65633016 [GRCh38]
Chr1:66098699 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.41-128A>G single nucleotide variant not provided [RCV001648736] Chr1:65570345 [GRCh38]
Chr1:66036028 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2370A>C (p.Ser790=) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001100151]|not provided [RCV000904983] Chr1:65618121 [GRCh38]
Chr1:66083804 [GRCh37]
Chr1:1p31.3		 benign|uncertain significance
NM_002303.6(LEPR):c.371-8_371-7insTTTTTTTTTT insertion not provided [RCV000905030] Chr1:65572318..65572319 [GRCh38]
Chr1:66038001..66038002 [GRCh37]
Chr1:1p31.3		 benign
NM_017526.5(LEPROT):c.16+700G>A single nucleotide variant not provided [RCV000898937] Chr1:65421440 [GRCh38]
Chr1:65887123 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1835G>A (p.Arg612His) single nucleotide variant LEPR-related disorder [RCV000778251]|Obesity due to leptin receptor gene deficiency [RCV002250694]|not provided [RCV000992270] Chr1:65610029 [GRCh38]
Chr1:66075712 [GRCh37]
Chr1:1p31.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002303.6(LEPR):c.371-2_371-1insT insertion LEPR-related disorder [RCV000778250] Chr1:65572324..65572325 [GRCh38]
Chr1:66038007..66038008 [GRCh37]
Chr1:1p31.3		 uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_002303.6(LEPR):c.36T>C (p.His12=) single nucleotide variant LEPR-related disorder [RCV004541888]|Obesity due to leptin receptor gene deficiency [RCV001098272]|not provided [RCV000901510]|not specified [RCV001664538] Chr1:65565601 [GRCh38]
Chr1:66031284 [GRCh37]
Chr1:1p31.3		 benign|uncertain significance
Single allele deletion Intellectual disability, severe [RCV000824954] Chr1:59922631..72058653 [GRCh37]
Chr1:1p32.1-31.1		 pathogenic
GRCh37/hg19 1p31.3(chr1:65853698-65965376)x3 copy number gain not provided [RCV000848119] Chr1:65853698..65965376 [GRCh37]
Chr1:1p31.3		 uncertain significance
GRCh37/hg19 1p31.3(chr1:65853698-65952922)x3 copy number gain not provided [RCV000848435] Chr1:65853698..65952922 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1157A>G (p.Asp386Gly) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001096635] Chr1:65601554 [GRCh38]
Chr1:66067237 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.*48G>C single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001096727] Chr1:65637063 [GRCh38]
Chr1:66102746 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.*287G>C single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001098466] Chr1:65637302 [GRCh38]
Chr1:66102985 [GRCh37]
Chr1:1p31.3		 uncertain significance
Single allele deletion Obesity due to leptin receptor gene deficiency [RCV000825024] Chr1:66038010..66067366 [GRCh37]
Chr1:1p31.3		 pathogenic
Single allele deletion not provided [RCV000844927] Chr1:66085524..88429789 [GRCh37]
Chr1:1p31.3-22.2		 not provided
NM_002303.6(LEPR):c.1285+20G>A single nucleotide variant not provided [RCV000992268]|not specified [RCV001729778] Chr1:65601702 [GRCh38]
Chr1:66067385 [GRCh37]
Chr1:1p31.3		 benign|likely benign
NM_002303.6(LEPR):c.345A>G (p.Val115=) single nucleotide variant LEPR-related disorder [RCV004536149]|Obesity due to leptin receptor gene deficiency [RCV001100044] Chr1:65570777 [GRCh38]
Chr1:66036460 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.1018A>G (p.Ile340Val) single nucleotide variant LEPR-related disorder [RCV004536144]|Obesity due to leptin receptor gene deficiency [RCV001096632]|not provided [RCV002554898] Chr1:65601415 [GRCh38]
Chr1:66067098 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.594G>A (p.Val198=) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001100046]|not provided [RCV002069685]|not specified [RCV001819804] Chr1:65592756 [GRCh38]
Chr1:66058439 [GRCh37]
Chr1:1p31.3		 benign|likely benign|uncertain significance
NM_002303.6(LEPR):c.1701C>T (p.Asn567=) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001098362] Chr1:65608850 [GRCh38]
Chr1:66074533 [GRCh37]
Chr1:1p31.3		 uncertain significance
GRCh37/hg19 1p31.3(chr1:65924642-66031145)x4 copy number gain not provided [RCV000846361] Chr1:65924642..66031145 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2153A>G (p.Asn718Ser) single nucleotide variant not provided [RCV000992271] Chr1:65616165 [GRCh38]
Chr1:66081848 [GRCh37]
Chr1:1p31.3		 uncertain significance
GRCh37/hg19 1p31.3(chr1:65853698-65969430)x3 copy number gain not provided [RCV000846833] Chr1:65853698..65969430 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_001003679.2(LEPR):c.-186C>T single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001096528] Chr1:65420651 [GRCh38]
Chr1:65886334 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn) single nucleotide variant Inborn genetic diseases [RCV002558772]|LEPR-related disorder [RCV004538396]|Monogenic diabetes [RCV001174408]|Obesity due to leptin receptor gene deficiency [RCV003227921]|not provided [RCV002558771] Chr1:65636435 [GRCh38]
Chr1:66102118 [GRCh37]
Chr1:1p31.3		 benign|likely benign|uncertain significance
NM_002303.6(LEPR):c.806A>G (p.Tyr269Cys) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001102035] Chr1:65596550 [GRCh38]
Chr1:66062233 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.3041C>G (p.Ser1014Cys) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001102138] Chr1:65636558 [GRCh38]
Chr1:66102241 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1341C>T (p.Cys447=) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001098358] Chr1:65601898 [GRCh38]
Chr1:66067581 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1413T>A (p.Leu471=) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001098360] Chr1:65605047 [GRCh38]
Chr1:66070730 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2046C>T (p.Asn682=) single nucleotide variant LEPR-related disorder [RCV004536148]|Obesity due to leptin receptor gene deficiency [RCV001098363] Chr1:65616058 [GRCh38]
Chr1:66081741 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.2221G>A (p.Val741Met) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001197965]|not provided [RCV003727950] Chr1:65617972 [GRCh38]
Chr1:66083655 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.371-26_371-25insG insertion not provided [RCV001576634] Chr1:65572300..65572301 [GRCh38]
Chr1:66037983..66037984 [GRCh37]
Chr1:1p31.3		 likely benign
NC_000001.10:g.(?_65299551)_(67861772_?)del deletion not provided [RCV003107630] Chr1:65299551..67861772 [GRCh37]
Chr1:1p31.3		 pathogenic
NM_002303.6(LEPR):c.371-80C>G single nucleotide variant not provided [RCV001599120] Chr1:65572246 [GRCh38]
Chr1:66037929 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2213-110G>A single nucleotide variant not provided [RCV001638730] Chr1:65617854 [GRCh38]
Chr1:66083537 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.494+324A>T single nucleotide variant not provided [RCV001561009] Chr1:65572773 [GRCh38]
Chr1:66038456 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.40+239_40+240insACACAC microsatellite not provided [RCV001555892] Chr1:65565843..65565844 [GRCh38]
Chr1:66031526..66031527 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.40+240_40+243del deletion not provided [RCV001569301] Chr1:65565844..65565847 [GRCh38]
Chr1:66031527..66031530 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1285+31T>C single nucleotide variant not provided [RCV001596825] Chr1:65601713 [GRCh38]
Chr1:66067396 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.704-26A>G single nucleotide variant not provided [RCV001550963] Chr1:65596422 [GRCh38]
Chr1:66062105 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.994+223C>T single nucleotide variant not provided [RCV001639502] Chr1:65599027 [GRCh38]
Chr1:66064710 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.1604-16T>C single nucleotide variant not provided [RCV002539640]|not specified [RCV001663439] Chr1:65608737 [GRCh38]
Chr1:66074420 [GRCh37]
Chr1:1p31.3		 benign|likely benign
NM_002303.6(LEPR):c.2396-86T>A single nucleotide variant not provided [RCV001649435] Chr1:65619842 [GRCh38]
Chr1:66085525 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2395+187_2395+188insCTTC insertion not provided [RCV001714597] Chr1:65618333..65618334 [GRCh38]
Chr1:66084016..66084017 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.40+240T>A single nucleotide variant not provided [RCV001696169] Chr1:65565845 [GRCh38]
Chr1:66031528 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2396-178A>G single nucleotide variant not provided [RCV001620872] Chr1:65619750 [GRCh38]
Chr1:66085433 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.-20-166G>A single nucleotide variant not provided [RCV001621799] Chr1:65565380 [GRCh38]
Chr1:66031063 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.3024A>G (p.Ser1008=) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001102137]|not provided [RCV000974844] Chr1:65636541 [GRCh38]
Chr1:66102224 [GRCh37]
Chr1:1p31.3		 benign|likely benign
NM_002303.6(LEPR):c.2390T>G (p.Ile797Ser) single nucleotide variant not provided [RCV000992272] Chr1:65618141 [GRCh38]
Chr1:66083824 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2597+15G>C single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001100152]|not provided [RCV000992273] Chr1:65621473 [GRCh38]
Chr1:66087156 [GRCh37]
Chr1:1p31.3		 benign|likely benign
NM_002303.6(LEPR):c.371-9T>A single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001100045]|not provided [RCV002554952] Chr1:65572317 [GRCh38]
Chr1:66038000 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.1292A>G (p.Asn431Ser) single nucleotide variant Monogenic diabetes [RCV001174407] Chr1:65601849 [GRCh38]
Chr1:66067532 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1040A>G (p.Asn347Ser) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001096634] Chr1:65601437 [GRCh38]
Chr1:66067120 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2958C>T (p.Tyr986=) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001102136]|not provided [RCV000955724] Chr1:65636475 [GRCh38]
Chr1:66102158 [GRCh37]
Chr1:1p31.3		 benign|likely benign
NM_002303.6(LEPR):c.370+129G>C single nucleotide variant not provided [RCV001570734] Chr1:65570931 [GRCh38]
Chr1:66036614 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.850-246C>T single nucleotide variant not provided [RCV001558147] Chr1:65598414 [GRCh38]
Chr1:66064097 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.40+241CA[11] microsatellite not provided [RCV001553297] Chr1:65565845..65565846 [GRCh38]
Chr1:66031528..66031529 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.494+303C>A single nucleotide variant not provided [RCV001717918] Chr1:65572752 [GRCh38]
Chr1:66038435 [GRCh37]
Chr1:1p31.3		 benign
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1 copy number loss Chromosome 1p32-p31 deletion syndrome [RCV001263218] Chr1:53675707..66644963 [GRCh37]
Chr1:1p32.3-31.3		 pathogenic
NM_002303.6(LEPR):c.850-230T>C single nucleotide variant not provided [RCV001618066] Chr1:65598430 [GRCh38]
Chr1:66064113 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2598-208C>T single nucleotide variant not provided [RCV001596578] Chr1:65622698 [GRCh38]
Chr1:66088381 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.495-125dup duplication not provided [RCV001621522] Chr1:65592521..65592522 [GRCh38]
Chr1:66058204..66058205 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2673+3353T>A single nucleotide variant not provided [RCV001677267] Chr1:65626334 [GRCh38]
Chr1:66092017 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.850-50A>C single nucleotide variant not provided [RCV001674735] Chr1:65598610 [GRCh38]
Chr1:66064293 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.1996-27A>G single nucleotide variant not provided [RCV001685631] Chr1:65615981 [GRCh38]
Chr1:66081664 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2212+177A>G single nucleotide variant not provided [RCV001653157] Chr1:65616401 [GRCh38]
Chr1:66082084 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2598-219A>G single nucleotide variant not provided [RCV001657090] Chr1:65622687 [GRCh38]
Chr1:66088370 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.611A>G (p.Lys204Arg) single nucleotide variant LEPR-related disorder [RCV004528384]|Obesity due to leptin receptor gene deficiency [RCV001102032]|not provided [RCV001856393] Chr1:65592773 [GRCh38]
Chr1:66058456 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.658G>A (p.Val220Ile) single nucleotide variant LEPR-related disorder [RCV004528402]|Monogenic diabetes [RCV001174406]|not provided [RCV003574855] Chr1:65592820 [GRCh38]
Chr1:66058503 [GRCh37]
Chr1:1p31.3		 benign|likely benign|uncertain significance
NM_002303.6(LEPR):c.704-8T>C single nucleotide variant LEPR-related disorder [RCV004536156]|Obesity due to leptin receptor gene deficiency [RCV001102034] Chr1:65596440 [GRCh38]
Chr1:66062123 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.40+239_40+240insACAC insertion not provided [RCV001708378] Chr1:65565843..65565844 [GRCh38]
Chr1:66031526..66031527 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.260T>C (p.Phe87Ser) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001100042] Chr1:65570692 [GRCh38]
Chr1:66036375 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2395+186_2395+187insC insertion not provided [RCV001714606] Chr1:65618332..65618333 [GRCh38]
Chr1:66084015..66084016 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2673+2994_2673+2997del deletion not provided [RCV001692763] Chr1:65625974..65625977 [GRCh38]
Chr1:66091657..66091660 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.495-125del deletion not provided [RCV001725307] Chr1:65592522 [GRCh38]
Chr1:66058205 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.371-25T>G single nucleotide variant not provided [RCV001694920] Chr1:65572301 [GRCh38]
Chr1:66037984 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.1404-299C>T single nucleotide variant not provided [RCV001645532] Chr1:65604739 [GRCh38]
Chr1:66070422 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.1603+162T>A single nucleotide variant not provided [RCV001669791] Chr1:65605399 [GRCh38]
Chr1:66071082 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2674-2861C>A single nucleotide variant not provided [RCV001666721] Chr1:65633330 [GRCh38]
Chr1:66099013 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.1299T>C (p.Asn433=) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001096636] Chr1:65601856 [GRCh38]
Chr1:66067539 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_017526.5(LEPROT):c.62T>G (p.Leu21Arg) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001098271] Chr1:65425348 [GRCh38]
Chr1:65891031 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1635A>G (p.Ala545=) single nucleotide variant LEPR-related disorder [RCV004545056]|Obesity due to leptin receptor gene deficiency [RCV001098361] Chr1:65608784 [GRCh38]
Chr1:66074467 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.1374G>A (p.Ala458=) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001098359] Chr1:65601931 [GRCh38]
Chr1:66067614 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.*251G>T single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001098465] Chr1:65637266 [GRCh38]
Chr1:66102949 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.*232G>A single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001098464]|not provided [RCV001550013] Chr1:65637247 [GRCh38]
Chr1:66102930 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.691C>T (p.Pro231Ser) single nucleotide variant Inborn genetic diseases [RCV002558022]|Obesity due to leptin receptor gene deficiency [RCV001102033] Chr1:65592853 [GRCh38]
Chr1:66058536 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.*153A>G single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001098463] Chr1:65637168 [GRCh38]
Chr1:66102851 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.*453C>T single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001098467] Chr1:65637468 [GRCh38]
Chr1:66103151 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.709C>T (p.Pro237Ser) single nucleotide variant Premature ovarian failure [RCV001270185] Chr1:65596453 [GRCh38]
Chr1:66062136 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1069G>T (p.Glu357Ter) single nucleotide variant Leptin receptor deficiency [RCV001330914] Chr1:65601466 [GRCh38]
Chr1:66067149 [GRCh37]
Chr1:1p31.3		 pathogenic
NM_002303.6(LEPR):c.849+49A>G single nucleotide variant not provided [RCV001541631] Chr1:65596642 [GRCh38]
Chr1:66062325 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2673+2835T>C single nucleotide variant not provided [RCV001541832] Chr1:65625816 [GRCh38]
Chr1:66091499 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.1752+307A>G single nucleotide variant not provided [RCV001653133] Chr1:65609208 [GRCh38]
Chr1:66074891 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.1753-44A>G single nucleotide variant not provided [RCV001675422] Chr1:65609903 [GRCh38]
Chr1:66075586 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2396-37T>A single nucleotide variant not provided [RCV001670035] Chr1:65619891 [GRCh38]
Chr1:66085574 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2673+3223C>T single nucleotide variant not provided [RCV001590884] Chr1:65626204 [GRCh38]
Chr1:66091887 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2674-3129C>A single nucleotide variant not provided [RCV001539159] Chr1:65633062 [GRCh38]
Chr1:66098745 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2597+160G>C single nucleotide variant not provided [RCV001611650] Chr1:65621618 [GRCh38]
Chr1:66087301 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.703+253A>G single nucleotide variant not provided [RCV001709897] Chr1:65593118 [GRCh38]
Chr1:66058801 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2395+167CTCTT[5] microsatellite not provided [RCV001618751] Chr1:65618312..65618313 [GRCh38]
Chr1:66083995..66083996 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.1604-270A>G single nucleotide variant not provided [RCV001650169] Chr1:65608483 [GRCh38]
Chr1:66074166 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2673+37C>A single nucleotide variant not provided [RCV001540898] Chr1:65623018 [GRCh38]
Chr1:66088701 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.2673+3114T>A single nucleotide variant not provided [RCV001539014] Chr1:65626095 [GRCh38]
Chr1:66091778 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.165G>C (p.Lys55Asn) single nucleotide variant not specified [RCV001817268] Chr1:65570597 [GRCh38]
Chr1:66036280 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1038T>C (p.Ser346=) single nucleotide variant LEPR-related disorder [RCV004542131]|not specified [RCV001820604] Chr1:65601435 [GRCh38]
Chr1:66067118 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2642G>T (p.Cys881Phe) single nucleotide variant LEPR-related disorder [RCV004542123]|not specified [RCV001817282] Chr1:65622950 [GRCh38]
Chr1:66088633 [GRCh37]
Chr1:1p31.3		 likely pathogenic|uncertain significance
NM_002303.6(LEPR):c.2034A>T (p.Arg678Ser) single nucleotide variant Inborn genetic diseases [RCV003365458]|LEPR-related disorder [RCV004536346]|not specified [RCV001822745] Chr1:65616046 [GRCh38]
Chr1:66081729 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1742T>C (p.Val581Ala) single nucleotide variant not specified [RCV001822451] Chr1:65608891 [GRCh38]
Chr1:66074574 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.974C>T (p.Pro325Leu) single nucleotide variant not provided [RCV002040205] Chr1:65598784 [GRCh38]
Chr1:66064467 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2960C>T (p.Ala987Val) single nucleotide variant not provided [RCV002002133] Chr1:65636477 [GRCh38]
Chr1:66102160 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1184A>G (p.Asn395Ser) single nucleotide variant not provided [RCV001968554] Chr1:65601581 [GRCh38]
Chr1:66067264 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2674-5935A>C single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001823843] Chr1:65630256 [GRCh38]
Chr1:66095939 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1834C>T (p.Arg612Cys) single nucleotide variant not provided [RCV002004242] Chr1:65610028 [GRCh38]
Chr1:66075711 [GRCh37]
Chr1:1p31.3		 uncertain significance
GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543) copy number gain not specified [RCV002053380] Chr1:65125111..69186543 [GRCh37]
Chr1:1p31.3-31.2		 uncertain significance
NM_002303.6(LEPR):c.995-2A>G single nucleotide variant not provided [RCV002036984] Chr1:65601390 [GRCh38]
Chr1:66067073 [GRCh37]
Chr1:1p31.3		 likely pathogenic
NM_002303.6(LEPR):c.1547A>G (p.Asn516Ser) single nucleotide variant not provided [RCV001879588] Chr1:65605181 [GRCh38]
Chr1:66070864 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.866C>T (p.Ser289Leu) single nucleotide variant not provided [RCV002050590] Chr1:65598676 [GRCh38]
Chr1:66064359 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.2873A>G (p.Gln958Arg) single nucleotide variant not provided [RCV001957548] Chr1:65636390 [GRCh38]
Chr1:66102073 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2651C>A (p.Ala884Glu) single nucleotide variant not provided [RCV002026030] Chr1:65622959 [GRCh38]
Chr1:66088642 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1713G>T (p.Gln571His) single nucleotide variant LEPR-related disorder [RCV004529041]|not provided [RCV001903817] Chr1:65608862 [GRCh38]
Chr1:66074545 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.296G>A (p.Cys99Tyr) single nucleotide variant Inborn genetic diseases [RCV002545840]|LEPR-related disorder [RCV004536374]|not provided [RCV001880334] Chr1:65570728 [GRCh38]
Chr1:66036411 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.133_136dup (p.Tyr46Ter) duplication Obesity due to leptin receptor gene deficiency [RCV002226617]|not provided [RCV003708622] Chr1:65570563..65570564 [GRCh38]
Chr1:66036246..66036247 [GRCh37]
Chr1:1p31.3		 pathogenic|likely pathogenic
NM_002303.6(LEPR):c.2919C>T (p.Thr973=) single nucleotide variant not provided [RCV002207848] Chr1:65636436 [GRCh38]
Chr1:66102119 [GRCh37]
Chr1:1p31.3		 likely benign
NC_000001.10:g.(?_61548464)_(67861772_?)del deletion not provided [RCV003116397] Chr1:61548464..67861772 [GRCh37]
Chr1:1p31.3		 pathogenic
NM_002303.6(LEPR):c.82A>G (p.Ile28Val) single nucleotide variant not provided [RCV003152086] Chr1:65570514 [GRCh38]
Chr1:66036197 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.893T>C (p.Ile298Thr) single nucleotide variant not provided [RCV003738378]|not specified [RCV003151554] Chr1:65598703 [GRCh38]
Chr1:66064386 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.421A>G (p.Ile141Val) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV002289395] Chr1:65572376 [GRCh38]
Chr1:66038059 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.457A>G (p.Arg153Gly) single nucleotide variant Inborn genetic diseases [RCV002727764] Chr1:65572412 [GRCh38]
Chr1:66038095 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.3267G>C (p.Glu1089Asp) single nucleotide variant not provided [RCV002750509] Chr1:65636784 [GRCh38]
Chr1:66102467 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_017526.5(LEPROT):c.230T>C (p.Ile77Thr) single nucleotide variant not specified [RCV004156365] Chr1:65429999 [GRCh38]
Chr1:65895682 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2922T>C (p.Tyr974=) single nucleotide variant not provided [RCV002994030] Chr1:65636439 [GRCh38]
Chr1:66102122 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1667T>C (p.Ile556Thr) single nucleotide variant Inborn genetic diseases [RCV002817183] Chr1:65608816 [GRCh38]
Chr1:66074499 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1651A>C (p.Ile551Leu) single nucleotide variant Inborn genetic diseases [RCV002687135] Chr1:65608800 [GRCh38]
Chr1:66074483 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1518A>G (p.Leu506=) single nucleotide variant LEPR-related disorder [RCV004545462]|not provided [RCV002967619] Chr1:65605152 [GRCh38]
Chr1:66070835 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.356T>A (p.Val119Asp) single nucleotide variant Inborn genetic diseases [RCV002865468] Chr1:65570788 [GRCh38]
Chr1:66036471 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.842T>C (p.Ile281Thr) single nucleotide variant Inborn genetic diseases [RCV002798766] Chr1:65596586 [GRCh38]
Chr1:66062269 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2724T>C (p.Cys908=) single nucleotide variant LEPR-related disorder [RCV004545353]|not provided [RCV002621176] Chr1:65636241 [GRCh38]
Chr1:66101924 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.3317C>T (p.Ala1106Val) single nucleotide variant Inborn genetic diseases [RCV002823105] Chr1:65636834 [GRCh38]
Chr1:66102517 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1373C>T (p.Ala458Val) single nucleotide variant Inborn genetic diseases [RCV002929208]|not provided [RCV002948822] Chr1:65601930 [GRCh38]
Chr1:66067613 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.469T>G (p.Tyr157Asp) single nucleotide variant Inborn genetic diseases [RCV002888330] Chr1:65572424 [GRCh38]
Chr1:66038107 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.873A>T (p.Thr291=) single nucleotide variant not provided [RCV003057155] Chr1:65598683 [GRCh38]
Chr1:66064366 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.3090G>A (p.Glu1030=) single nucleotide variant LEPR-related disorder [RCV004545421]|not provided [RCV002917688] Chr1:65636607 [GRCh38]
Chr1:66102290 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2124A>C (p.Gln708His) single nucleotide variant not provided [RCV002890924] Chr1:65616136 [GRCh38]
Chr1:66081819 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2560A>G (p.Ile854Val) single nucleotide variant Inborn genetic diseases [RCV002827377] Chr1:65621421 [GRCh38]
Chr1:66087104 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2947T>C (p.Phe983Leu) single nucleotide variant not provided [RCV002594935] Chr1:65636464 [GRCh38]
Chr1:66102147 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.575A>C (p.Glu192Ala) single nucleotide variant LEPR-related disorder [RCV004529152]|not provided [RCV002572658] Chr1:65592737 [GRCh38]
Chr1:66058420 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.2598-20G>A single nucleotide variant not provided [RCV002573644] Chr1:65622886 [GRCh38]
Chr1:66088569 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1117G>A (p.Ala373Thr) single nucleotide variant Inborn genetic diseases [RCV002826583] Chr1:65601514 [GRCh38]
Chr1:66067197 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_017526.5(LEPROT):c.22G>A (p.Val8Met) single nucleotide variant not specified [RCV004080233] Chr1:65425308 [GRCh38]
Chr1:65890991 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1813G>T (p.Ala605Ser) single nucleotide variant not provided [RCV003009423] Chr1:65610007 [GRCh38]
Chr1:66075690 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1418G>C (p.Cys473Ser) single nucleotide variant not provided [RCV002671352] Chr1:65605052 [GRCh38]
Chr1:66070735 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1603+5G>C single nucleotide variant not provided [RCV002648158] Chr1:65605242 [GRCh38]
Chr1:66070925 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.180G>A (p.Ser60=) single nucleotide variant LEPR-related disorder [RCV004545341]|not provided [RCV002576532] Chr1:65570612 [GRCh38]
Chr1:66036295 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1950T>C (p.Asn650=) single nucleotide variant not provided [RCV002966641] Chr1:65610251 [GRCh38]
Chr1:66075934 [GRCh37]
Chr1:1p31.3		 benign
NM_002303.6(LEPR):c.3437A>C (p.Gln1146Pro) single nucleotide variant Inborn genetic diseases [RCV002936135] Chr1:65636954 [GRCh38]
Chr1:66102637 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2063A>G (p.Asn688Ser) single nucleotide variant Inborn genetic diseases [RCV002855672] Chr1:65616075 [GRCh38]
Chr1:66081758 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_017526.5(LEPROT):c.94G>A (p.Val32Ile) single nucleotide variant not specified [RCV004090410] Chr1:65429863 [GRCh38]
Chr1:65895546 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.346A>C (p.Asn116His) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV003228592] Chr1:65570778 [GRCh38]
Chr1:66036461 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.976C>T (p.Arg326Cys) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV003228593] Chr1:65598786 [GRCh38]
Chr1:66064469 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.3240A>C (p.Leu1080Phe) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV003228664] Chr1:65636757 [GRCh38]
Chr1:66102440 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2768G>A (p.Ser923Asn) single nucleotide variant Inborn genetic diseases [RCV003212277] Chr1:65636285 [GRCh38]
Chr1:66101968 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1874G>A (p.Trp625Ter) single nucleotide variant not provided [RCV003219090] Chr1:65610068 [GRCh38]
Chr1:66075751 [GRCh37]
Chr1:1p31.3		 pathogenic
NM_002303.6(LEPR):c.197C>A (p.Thr66Lys) single nucleotide variant Inborn genetic diseases [RCV003309966] Chr1:65570629 [GRCh38]
Chr1:66036312 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1717C>A (p.Arg573Ser) single nucleotide variant not provided [RCV003321172] Chr1:65608866 [GRCh38]
Chr1:66074549 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.495-2927T>G single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV003336001] Chr1:65589730 [GRCh38]
Chr1:66055413 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1012C>A (p.Pro338Thr) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV003335990] Chr1:65601409 [GRCh38]
Chr1:66067092 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1096A>T (p.Ile366Phe) single nucleotide variant Inborn genetic diseases [RCV003378646] Chr1:65601493 [GRCh38]
Chr1:66067176 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_017526.5(LEPROT):c.199C>T (p.Arg67Trp) single nucleotide variant not specified [RCV004343181] Chr1:65429968 [GRCh38]
Chr1:65895651 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.3294A>G (p.Ser1098=) single nucleotide variant not provided [RCV003875299] Chr1:65636811 [GRCh38]
Chr1:66102494 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.76T>C (p.Tyr26His) single nucleotide variant LEPR-related disorder [RCV004528741] Chr1:65570508 [GRCh38]
Chr1:66036191 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.715C>T (p.Pro239Ser) single nucleotide variant LEPR-related disorder [RCV004527859] Chr1:65596459 [GRCh38]
Chr1:66062142 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2674-5892A>G single nucleotide variant LEPR-related disorder [RCV004528575] Chr1:65630299 [GRCh38]
Chr1:66095982 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.875C>A (p.Ser292Tyr) single nucleotide variant LEPR-related disorder [RCV004528573]|not provided [RCV003553901] Chr1:65598685 [GRCh38]
Chr1:66064368 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1825G>A (p.Val609Ile) single nucleotide variant LEPR-related disorder [RCV004536697] Chr1:65610019 [GRCh38]
Chr1:66075702 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.977G>A (p.Arg326His) single nucleotide variant LEPR-related disorder [RCV004531756] Chr1:65598787 [GRCh38]
Chr1:66064470 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2674-5958A>G single nucleotide variant LEPR-related disorder [RCV004536769] Chr1:65630233 [GRCh38]
Chr1:66095916 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.3056C>T (p.Pro1019Leu) single nucleotide variant LEPR-related disorder [RCV004529741] Chr1:65636573 [GRCh38]
Chr1:66102256 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.3478A>G (p.Met1160Val) single nucleotide variant LEPR-related disorder [RCV004529739] Chr1:65636995 [GRCh38]
Chr1:66102678 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.340A>G (p.Thr114Ala) single nucleotide variant LEPR-related disorder [RCV004538987] Chr1:65570772 [GRCh38]
Chr1:66036455 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2963C>T (p.Thr988Met) single nucleotide variant LEPR-related disorder [RCV004531705] Chr1:65636480 [GRCh38]
Chr1:66102163 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1063A>G (p.Lys355Glu) single nucleotide variant Inborn genetic diseases [RCV004364457]|LEPR-related disorder [RCV004536650] Chr1:65601460 [GRCh38]
Chr1:66067143 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.391T>A (p.Cys131Ser) single nucleotide variant LEPR-related disorder [RCV004536675] Chr1:65572346 [GRCh38]
Chr1:66038029 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.531A>G (p.Gln177=) single nucleotide variant LEPR-related disorder [RCV004529775] Chr1:65592693 [GRCh38]
Chr1:66058376 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1373C>A (p.Ala458Glu) single nucleotide variant LEPR-related disorder [RCV004531542] Chr1:65601930 [GRCh38]
Chr1:66067613 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.3469G>C (p.Glu1157Gln) single nucleotide variant LEPR-related disorder [RCV004531579] Chr1:65636986 [GRCh38]
Chr1:66102669 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.371A>T (p.Asp124Val) single nucleotide variant LEPR-related disorder [RCV004534322] Chr1:65572326 [GRCh38]
Chr1:66038009 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1442C>T (p.Pro481Leu) single nucleotide variant Inborn genetic diseases [RCV004362900]|LEPR-related disorder [RCV004534353] Chr1:65605076 [GRCh38]
Chr1:66070759 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2673+3149C>G single nucleotide variant LEPR-related disorder [RCV004531668] Chr1:65626130 [GRCh38]
Chr1:66091813 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1912+5G>A single nucleotide variant LEPR-related disorder [RCV004531699] Chr1:65610111 [GRCh38]
Chr1:66075794 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.635G>A (p.Cys212Tyr) single nucleotide variant LEPR-related disorder [RCV004528585] Chr1:65592797 [GRCh38]
Chr1:66058480 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1718G>A (p.Arg573His) single nucleotide variant LEPR-related disorder [RCV004531766] Chr1:65608867 [GRCh38]
Chr1:66074550 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1191T>G (p.Asn397Lys) single nucleotide variant LEPR-related disorder [RCV004528590] Chr1:65601588 [GRCh38]
Chr1:66067271 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2415G>A (p.Glu805=) single nucleotide variant not provided [RCV003716688] Chr1:65619947 [GRCh38]
Chr1:66085630 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.504G>A (p.Val168=) single nucleotide variant not provided [RCV003715614] Chr1:65592666 [GRCh38]
Chr1:66058349 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.309A>C (p.Ala103=) single nucleotide variant not provided [RCV003545510] Chr1:65570741 [GRCh38]
Chr1:66036424 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.704-17T>C single nucleotide variant not provided [RCV003576224] Chr1:65596431 [GRCh38]
Chr1:66062114 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1603+14C>T single nucleotide variant not provided [RCV003839264] Chr1:65605251 [GRCh38]
Chr1:66070934 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.3027C>G (p.Val1009=) single nucleotide variant not provided [RCV003856181] Chr1:65636544 [GRCh38]
Chr1:66102227 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1286-11G>A single nucleotide variant not provided [RCV003816543] Chr1:65601832 [GRCh38]
Chr1:66067515 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2334T>C (p.Asn778=) single nucleotide variant not provided [RCV003673806] Chr1:65618085 [GRCh38]
Chr1:66083768 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1298A>G (p.Asn433Ser) single nucleotide variant LEPR-related disorder [RCV004539173]|not provided [RCV003862973] Chr1:65601855 [GRCh38]
Chr1:66067538 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.253dup (p.Thr85fs) duplication not provided [RCV003680894] Chr1:65570681..65570682 [GRCh38]
Chr1:66036364..66036365 [GRCh37]
Chr1:1p31.3		 pathogenic
NM_002303.6(LEPR):c.2928C>T (p.Asp976=) single nucleotide variant LEPR-related disorder [RCV004539087]|not provided [RCV003722650] Chr1:65636445 [GRCh38]
Chr1:66102128 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.3280T>C (p.Leu1094=) single nucleotide variant not provided [RCV003846171] Chr1:65636797 [GRCh38]
Chr1:66102480 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.3285T>G (p.Thr1095=) single nucleotide variant not provided [RCV003858244] Chr1:65636802 [GRCh38]
Chr1:66102485 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.371-17T>G single nucleotide variant not provided [RCV003818705] Chr1:65572309 [GRCh38]
Chr1:66037992 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1623C>G (p.Ser541=) single nucleotide variant not provided [RCV003845660] Chr1:65608772 [GRCh38]
Chr1:66074455 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.81A>G (p.Pro27=) single nucleotide variant not provided [RCV003564075] Chr1:65570513 [GRCh38]
Chr1:66036196 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.3441T>G (p.Thr1147=) single nucleotide variant not provided [RCV003681872] Chr1:65636958 [GRCh38]
Chr1:66102641 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2674-5960T>A single nucleotide variant LEPR-related disorder [RCV004540811] Chr1:65630231 [GRCh38]
Chr1:66095914 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2218A>G (p.Ile740Val) single nucleotide variant LEPR-related disorder [RCV004534513] Chr1:65617969 [GRCh38]
Chr1:66083652 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2673+3165A>G single nucleotide variant LEPR-related disorder [RCV004537001] Chr1:65626146 [GRCh38]
Chr1:66091829 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1343G>C (p.Arg448Thr) single nucleotide variant LEPR-related disorder [RCV004534641] Chr1:65601900 [GRCh38]
Chr1:66067583 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.1612C>T (p.Leu538=) single nucleotide variant LEPR-related disorder [RCV004534483] Chr1:65608761 [GRCh38]
Chr1:66074444 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.937C>T (p.Leu313=) single nucleotide variant LEPR-related disorder [RCV004542565] Chr1:65598747 [GRCh38]
Chr1:66064430 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1986_1990del (p.Leu663fs) microsatellite LEPR-related disorder [RCV004531970] Chr1:65610282..65610286 [GRCh38]
Chr1:66075965..66075969 [GRCh37]
Chr1:1p31.3		 likely pathogenic
NM_002303.6(LEPR):c.2628G>A (p.Pro876=) single nucleotide variant LEPR-related disorder [RCV004539229] Chr1:65622936 [GRCh38]
Chr1:66088619 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.618C>T (p.Asn206=) single nucleotide variant LEPR-related disorder [RCV004542369] Chr1:65592780 [GRCh38]
Chr1:66058463 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1368A>G (p.Ser456=) single nucleotide variant LEPR-related disorder [RCV004532020] Chr1:65601925 [GRCh38]
Chr1:66067608 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.695T>G (p.Ile232Arg) single nucleotide variant LEPR-related disorder [RCV004545665] Chr1:65592857 [GRCh38]
Chr1:66058540 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.371-13_371-9del deletion LEPR-related disorder [RCV004542568] Chr1:65572291..65572295 [GRCh38]
Chr1:66037974..66037978 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1011A>G (p.Pro337=) single nucleotide variant LEPR-related disorder [RCV004542382] Chr1:65601408 [GRCh38]
Chr1:66067091 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.371-22_371-9del deletion LEPR-related disorder [RCV004539499] Chr1:65572291..65572304 [GRCh38]
Chr1:66037974..66037987 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.3203C>G (p.Pro1068Arg) single nucleotide variant LEPR-related disorder [RCV004532048] Chr1:65636720 [GRCh38]
Chr1:66102403 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2597+9C>T single nucleotide variant LEPR-related disorder [RCV004545715] Chr1:65621467 [GRCh38]
Chr1:66087150 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2794G>A (p.Asp932Asn) single nucleotide variant LEPR-related disorder [RCV004534634] Chr1:65636311 [GRCh38]
Chr1:66101994 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2674-5785T>A single nucleotide variant LEPR-related disorder [RCV004532093] Chr1:65630406 [GRCh38]
Chr1:66096089 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.3432A>G (p.Gln1144=) single nucleotide variant LEPR-related disorder [RCV004544024] Chr1:65636949 [GRCh38]
Chr1:66102632 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1531A>G (p.Met511Val) single nucleotide variant LEPR-related disorder [RCV004542385] Chr1:65605165 [GRCh38]
Chr1:66070848 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2759A>G (p.Glu920Gly) single nucleotide variant LEPR-related disorder [RCV004542606] Chr1:65636276 [GRCh38]
Chr1:66101959 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.371-8A>C single nucleotide variant LEPR-related disorder [RCV004539223] Chr1:65572318 [GRCh38]
Chr1:66038001 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.371-19_371-9del deletion LEPR-related disorder [RCV004542520] Chr1:65572291..65572301 [GRCh38]
Chr1:66037974..66037984 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2674-5846C>G single nucleotide variant LEPR-related disorder [RCV004544201] Chr1:65630345 [GRCh38]
Chr1:66096028 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2674-5780A>T single nucleotide variant LEPR-related disorder [RCV004540945] Chr1:65630411 [GRCh38]
Chr1:66096094 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2024G>C (p.Ser675Thr) single nucleotide variant LEPR-related disorder [RCV004540946] Chr1:65616036 [GRCh38]
Chr1:66081719 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2674-5781dup duplication LEPR-related disorder [RCV004540951] Chr1:65630409..65630410 [GRCh38]
Chr1:66096092..66096093 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2969T>C (p.Ile990Thr) single nucleotide variant LEPR-related disorder [RCV004540799] Chr1:65636486 [GRCh38]
Chr1:66102169 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.317T>C (p.Ile106Thr) single nucleotide variant Inborn genetic diseases [RCV004369886]|LEPR-related disorder [RCV004540802] Chr1:65570749 [GRCh38]
Chr1:66036432 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance
NM_002303.6(LEPR):c.1020T>C (p.Ile340=) single nucleotide variant LEPR-related disorder [RCV004536996] Chr1:65601417 [GRCh38]
Chr1:66067100 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.371-12_371-9del deletion LEPR-related disorder [RCV004542564] Chr1:65572291..65572294 [GRCh38]
Chr1:66037974..66037977 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2598-3T>C single nucleotide variant LEPR-related disorder [RCV004534473] Chr1:65622903 [GRCh38]
Chr1:66088586 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.354A>G (p.Leu118=) single nucleotide variant LEPR-related disorder [RCV004531973] Chr1:65570786 [GRCh38]
Chr1:66036469 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.3387C>T (p.Asn1129=) single nucleotide variant LEPR-related disorder [RCV004539349] Chr1:65636904 [GRCh38]
Chr1:66102587 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1209A>G (p.Gly403=) single nucleotide variant LEPR-related disorder [RCV004539345] Chr1:65601606 [GRCh38]
Chr1:66067289 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.370+10A>G single nucleotide variant LEPR-related disorder [RCV004545478] Chr1:65570812 [GRCh38]
Chr1:66036495 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.371-20_371-9dup duplication LEPR-related disorder [RCV004537035] Chr1:65572290..65572291 [GRCh38]
Chr1:66037973..66037974 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.2720C>T (p.Thr907Ile) single nucleotide variant LEPR-related disorder [RCV004532011] Chr1:65636237 [GRCh38]
Chr1:66101920 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.519T>C (p.Pro173=) single nucleotide variant LEPR-related disorder [RCV004534433] Chr1:65592681 [GRCh38]
Chr1:66058364 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.1752+1G>A single nucleotide variant Obesity due to congenital leptin deficiency [RCV004577246] Chr1:65608902 [GRCh38]
Chr1:66074585 [GRCh37]
Chr1:1p31.3		 likely pathogenic
NM_002303.6(LEPR):c.1420T>A (p.Ser474Thr) single nucleotide variant Inborn genetic diseases [RCV004412769] Chr1:65605054 [GRCh38]
Chr1:66070737 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.3229A>G (p.Ile1077Val) single nucleotide variant Inborn genetic diseases [RCV004412773] Chr1:65636746 [GRCh38]
Chr1:66102429 [GRCh37]
Chr1:1p31.3		 likely benign
NM_002303.6(LEPR):c.853G>A (p.Asp285Asn) single nucleotide variant Inborn genetic diseases [RCV004412774] Chr1:65598663 [GRCh38]
Chr1:66064346 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_002303.6(LEPR):c.2278C>G (p.Leu760Val) single nucleotide variant Inborn genetic diseases [RCV004412771] Chr1:65618029 [GRCh38]
Chr1:66083712 [GRCh37]
Chr1:1p31.3		 uncertain significance
NC_000001.10:g.(?_61548464)_(67861772_?)dup duplication PGM1-congenital disorder of glycosylation [RCV004584077] Chr1:61548464..67861772 [GRCh37] uncertain significance
NC_000001.10:g.(?_66101854)_(66102698_?)del deletion not provided [RCV004579106] Chr1:66101854..66102698 [GRCh37] pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3027
Count of miRNA genes:1187
Interacting mature miRNAs:1484
Transcripts:ENST00000344610, ENST00000349533, ENST00000371058, ENST00000371059, ENST00000371060, ENST00000406510, ENST00000462765, ENST00000471762
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2314561GLUCO47_HGlucose level QTL 47 (human)1.1Glucose level14477336070773360Human
1578602LDLPS21_HLow density lipoprotein particle size QTL 21 (human)2.050.00037LDL particle size15253110578531105Human
1578620LDLPS20_HLow density lipoprotein particle size QTL 21 (human)2.040.00046LDL particle size15253110578531105Human
1578594LDLPS19_HLow density lipoprotein particle size QTL 19 (human)2.560.00009LDL particle size15253110578531105Human

Markers in Region
SHGC-74954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,899,258 - 65,899,359UniSTSGRCh37
Build 36165,671,846 - 65,671,947RGDNCBI36
Celera164,189,842 - 64,189,943RGD
Cytogenetic Map1p31UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef164,008,058 - 64,008,159UniSTS
TNG Radiation Hybrid Map190960.0UniSTS
GeneMap99-GB4 RH Map1174.74UniSTS
NCBI RH Map1434.7UniSTS
SHGC-74936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,895,163 - 65,895,292UniSTSGRCh37
Build 36165,667,751 - 65,667,880RGDNCBI36
Celera164,185,747 - 64,185,876RGD
Cytogenetic Map1p31UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef164,003,963 - 64,004,092UniSTS
TNG Radiation Hybrid Map190964.0UniSTS
GeneMap99-GB4 RH Map1173.9UniSTS
RH80929  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,898,663 - 65,898,902UniSTSGRCh37
Build 36165,671,251 - 65,671,490RGDNCBI36
Celera164,189,247 - 64,189,486RGD
Cytogenetic Map1p31UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef164,007,463 - 64,007,702UniSTS
GeneMap99-GB4 RH Map1174.59UniSTS
AL034254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,947,820 - 65,948,030UniSTSGRCh37
Build 36165,720,408 - 65,720,618RGDNCBI36
Celera164,238,454 - 64,238,664RGD
Cytogenetic Map1p31UniSTS
HuRef164,056,620 - 64,056,830UniSTS
RH102615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,901,362 - 65,901,534UniSTSGRCh37
Build 36165,673,950 - 65,674,122RGDNCBI36
Celera164,191,946 - 64,192,118RGD
Cytogenetic Map1p31UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef164,010,162 - 64,010,334UniSTS
GeneMap99-GB4 RH Map1173.9UniSTS
G62073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,898,818 - 65,898,947UniSTSGRCh37
Build 36165,671,406 - 65,671,535RGDNCBI36
Celera164,189,402 - 64,189,531RGD
Cytogenetic Map1p31UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef164,007,618 - 64,007,747UniSTS
SHGC-112228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37166,032,980 - 66,033,268UniSTSGRCh37
Build 36165,805,568 - 65,805,856RGDNCBI36
Celera164,323,597 - 64,323,885RGD
Cytogenetic Map1p31UniSTS
HuRef164,141,690 - 64,141,978UniSTS
TNG Radiation Hybrid Map137233.0UniSTS
RH68452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,898,137 - 65,898,288UniSTSGRCh37
Build 36165,670,725 - 65,670,876RGDNCBI36
Celera164,188,721 - 64,188,872RGD
Cytogenetic Map1p31UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef164,006,937 - 64,007,088UniSTS
GeneMap99-GB4 RH Map1173.9UniSTS
LEPR-2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37166,101,980 - 66,102,482UniSTSGRCh37
Build 36165,874,568 - 65,875,070RGDNCBI36
Celera164,392,591 - 64,393,093RGD
Cytogenetic Map1p31UniSTS
HuRef164,210,999 - 64,211,501UniSTS
PMC209419P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37166,102,005 - 66,102,242UniSTSGRCh37
Build 36165,874,593 - 65,874,830RGDNCBI36
Celera164,392,616 - 64,392,853RGD
Cytogenetic Map1p31UniSTS
HuRef164,211,024 - 64,211,261UniSTS
PMC310709P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37166,102,273 - 66,102,637UniSTSGRCh37
Build 36165,874,861 - 65,875,225RGDNCBI36
Celera164,392,884 - 64,393,248RGD
Cytogenetic Map1p31UniSTS
HuRef164,211,292 - 64,211,656UniSTS
OBRGRP_2328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,897,617 - 65,898,316UniSTSGRCh37
Build 36165,670,205 - 65,670,904RGDNCBI36
Celera164,188,201 - 64,188,900RGD
HuRef164,006,417 - 64,007,116UniSTS
G20438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,898,003 - 65,898,177UniSTSGRCh37
Build 36165,670,591 - 65,670,765RGDNCBI36
Celera164,188,587 - 64,188,761RGD
Cytogenetic Map1p31UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef164,006,803 - 64,006,977UniSTS
A005R18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,898,003 - 65,898,177UniSTSGRCh37
Build 36165,670,591 - 65,670,765RGDNCBI36
Celera164,188,587 - 64,188,761RGD
Cytogenetic Map1p31UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef164,006,803 - 64,006,977UniSTS
TNG Radiation Hybrid Map191020.0UniSTS
GeneMap99-GB4 RH Map1173.9UniSTS
NCBI RH Map1434.7UniSTS
MARC_46109-46110:1108421773:4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37166,075,682 - 66,075,923UniSTSGRCh37
Build 36165,848,270 - 65,848,511RGDNCBI36
Celera164,366,293 - 64,366,534RGD
HuRef164,184,699 - 64,184,940UniSTS
D1S3711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37166,102,341 - 66,102,779UniSTSGRCh37
Build 36165,874,929 - 65,875,367RGDNCBI36
Celera164,392,952 - 64,393,390RGD
Cytogenetic Map1p31UniSTS
HuRef164,211,360 - 64,211,798UniSTS
SHGC-74948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37166,100,951 - 66,101,078UniSTSGRCh37
Build 36165,873,539 - 65,873,666RGDNCBI36
Celera164,391,562 - 64,391,689RGD
Cytogenetic Map1p31UniSTS
HuRef164,209,970 - 64,210,097UniSTS
TNG Radiation Hybrid Map137217.0UniSTS
GeneMap99-GB4 RH Map1174.38UniSTS
SHGC-32733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,897,327 - 65,897,452UniSTSGRCh37
Build 36165,669,915 - 65,670,040RGDNCBI36
Celera164,187,911 - 64,188,036RGD
Cytogenetic Map1p31UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef164,006,127 - 64,006,252UniSTS
TNG Radiation Hybrid Map190974.0UniSTS
Stanford-G3 RH Map13276.0UniSTS
GeneMap99-GB4 RH Map1175.7UniSTS
Whitehead-RH Map1202.3UniSTS
GeneMap99-G3 RH Map13282.0UniSTS
RH79027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,897,925 - 65,898,062UniSTSGRCh37
Build 36165,670,513 - 65,670,650RGDNCBI36
Celera164,188,509 - 64,188,646RGD
Cytogenetic Map1p31UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef164,006,725 - 64,006,862UniSTS
GeneMap99-GB4 RH Map1173.9UniSTS
AL009879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,957,768 - 65,957,893UniSTSGRCh37
Build 36165,730,356 - 65,730,481RGDNCBI36
Celera164,248,390 - 64,248,515RGD
Cytogenetic Map1p31UniSTS
HuRef164,066,556 - 64,066,681UniSTS
SHGC-56809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37166,100,796 - 66,101,039UniSTSGRCh37
Build 36165,873,384 - 65,873,627RGDNCBI36
Celera164,391,407 - 64,391,650RGD
Cytogenetic Map1p31UniSTS
HuRef164,209,815 - 64,210,058UniSTS
TNG Radiation Hybrid Map137217.0UniSTS
LEPR_4006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37166,102,077 - 66,102,921UniSTSGRCh37
Build 36165,874,665 - 65,875,509RGDNCBI36
Celera164,392,688 - 64,393,532RGD
HuRef164,211,096 - 64,211,940UniSTS
D1S3710  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p31UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 215 431 621 328 41 279 1100 76 668 49 316 658 52 459 828
Low 2177 1769 1075 292 1168 182 2912 1659 2995 350 1123 944 122 1 744 1634 5 2
Below cutoff 47 791 30 4 742 4 344 461 71 20 21 10 1 326 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001003679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001003680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA813024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC119800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI436180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW302522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX475249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ860097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC013711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT921412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT921413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT921414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT921415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT921416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC389336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC389827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC424203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC425085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC425086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC425087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC425088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC425089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC425090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC426725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC426726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC426727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC427228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U50748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000344610   ⟹   ENSP00000340884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,525,689 - 65,626,234 (+)Ensembl
Ensembl Acc Id: ENST00000349533   ⟹   ENSP00000330393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,420,668 - 65,641,559 (+)Ensembl
Ensembl Acc Id: ENST00000371058   ⟹   ENSP00000360097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,565,546 - 65,626,234 (+)Ensembl
Ensembl Acc Id: ENST00000371059   ⟹   ENSP00000360098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,420,652 - 65,630,422 (+)Ensembl
Ensembl Acc Id: ENST00000371060   ⟹   ENSP00000360099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,420,652 - 65,635,428 (+)Ensembl
Ensembl Acc Id: ENST00000462765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,525,689 - 65,610,268 (+)Ensembl
Ensembl Acc Id: ENST00000471762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,619,940 - 65,623,384 (+)Ensembl
Ensembl Acc Id: ENST00000616738   ⟹   ENSP00000483390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl165,525,689 - 65,635,409 (+)Ensembl
RefSeq Acc Id: NM_001003679   ⟹   NP_001003679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,420,652 - 65,635,428 (+)NCBI
GRCh37165,886,335 - 66,103,176 (+)ENTREZGENE
Build 36165,658,906 - 65,873,699 (+)NCBI Archive
HuRef163,995,123 - 64,212,195 (+)ENTREZGENE
CHM1_1166,002,606 - 66,217,171 (+)NCBI
T2T-CHM13v2.0165,298,629 - 65,513,217 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001003680   ⟹   NP_001003680
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,420,652 - 65,630,422 (+)NCBI
GRCh37165,886,335 - 66,103,176 (+)ENTREZGENE
Build 36165,658,906 - 65,868,693 (+)NCBI Archive
HuRef163,995,123 - 64,212,195 (+)ENTREZGENE
CHM1_1166,002,606 - 66,212,166 (+)NCBI
T2T-CHM13v2.0165,298,629 - 65,508,210 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198687   ⟹   NP_001185616
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,525,651 - 65,630,436 (+)NCBI
GRCh37165,886,335 - 66,103,176 (+)ENTREZGENE
HuRef163,995,123 - 64,212,195 (+)ENTREZGENE
CHM1_1166,107,683 - 66,212,166 (+)NCBI
T2T-CHM13v2.0165,403,370 - 65,508,210 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198688   ⟹   NP_001185617
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,525,689 - 65,626,234 (+)NCBI
GRCh37165,886,335 - 66,103,176 (+)ENTREZGENE
HuRef163,995,123 - 64,212,195 (+)ENTREZGENE
CHM1_1166,107,683 - 66,207,978 (+)NCBI
T2T-CHM13v2.0165,403,408 - 65,504,021 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198689   ⟹   NP_001185618
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,525,651 - 65,635,428 (+)NCBI
GRCh37165,886,335 - 66,103,176 (+)ENTREZGENE
HuRef163,995,123 - 64,212,195 (+)ENTREZGENE
CHM1_1166,107,683 - 66,217,171 (+)NCBI
T2T-CHM13v2.0165,403,370 - 65,513,217 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002303   ⟹   NP_002294
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,420,668 - 65,641,559 (+)NCBI
GRCh37165,886,335 - 66,103,176 (+)ENTREZGENE
Build 36165,658,906 - 65,875,410 (+)NCBI Archive
HuRef163,995,123 - 64,212,195 (+)ENTREZGENE
CHM1_1166,002,606 - 66,219,234 (+)NCBI
T2T-CHM13v2.0165,298,645 - 65,519,352 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001003679 (Get FASTA)   NCBI Sequence Viewer  
  NP_001003680 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185616 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185617 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185618 (Get FASTA)   NCBI Sequence Viewer  
  NP_002294 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA93015 (Get FASTA)   NCBI Sequence Viewer  
  AAB07495 (Get FASTA)   NCBI Sequence Viewer  
  AAB07496 (Get FASTA)   NCBI Sequence Viewer  
  AAB07497 (Get FASTA)   NCBI Sequence Viewer  
  AAC23650 (Get FASTA)   NCBI Sequence Viewer  
  AAC50509 (Get FASTA)   NCBI Sequence Viewer  
  AAC50510 (Get FASTA)   NCBI Sequence Viewer  
  AAC50511 (Get FASTA)   NCBI Sequence Viewer  
  AAH31086 (Get FASTA)   NCBI Sequence Viewer  
  AAI31780 (Get FASTA)   NCBI Sequence Viewer  
  AGB14642 (Get FASTA)   NCBI Sequence Viewer  
  ALV89809 (Get FASTA)   NCBI Sequence Viewer  
  ALV89810 (Get FASTA)   NCBI Sequence Viewer  
  ALV89811 (Get FASTA)   NCBI Sequence Viewer  
  ALV89812 (Get FASTA)   NCBI Sequence Viewer  
  ALV89813 (Get FASTA)   NCBI Sequence Viewer  
  BAF82897 (Get FASTA)   NCBI Sequence Viewer  
  BBF17090 (Get FASTA)   NCBI Sequence Viewer  
  BBF17159 (Get FASTA)   NCBI Sequence Viewer  
  BBG31758 (Get FASTA)   NCBI Sequence Viewer  
  BBG55999 (Get FASTA)   NCBI Sequence Viewer  
  BBG56000 (Get FASTA)   NCBI Sequence Viewer  
  BBG56001 (Get FASTA)   NCBI Sequence Viewer  
  BBG56002 (Get FASTA)   NCBI Sequence Viewer  
  BBG56003 (Get FASTA)   NCBI Sequence Viewer  
  BBG56004 (Get FASTA)   NCBI Sequence Viewer  
  BBG56868 (Get FASTA)   NCBI Sequence Viewer  
  BBG56869 (Get FASTA)   NCBI Sequence Viewer  
  BBG56870 (Get FASTA)   NCBI Sequence Viewer  
  BBG56926 (Get FASTA)   NCBI Sequence Viewer  
  BBG56927 (Get FASTA)   NCBI Sequence Viewer  
  BBG56928 (Get FASTA)   NCBI Sequence Viewer  
  BBG56929 (Get FASTA)   NCBI Sequence Viewer  
  BBG56930 (Get FASTA)   NCBI Sequence Viewer  
  BBG56931 (Get FASTA)   NCBI Sequence Viewer  
  BBG56932 (Get FASTA)   NCBI Sequence Viewer  
  BBG56933 (Get FASTA)   NCBI Sequence Viewer  
  BBG56934 (Get FASTA)   NCBI Sequence Viewer  
  BBG56935 (Get FASTA)   NCBI Sequence Viewer  
  BBG56936 (Get FASTA)   NCBI Sequence Viewer  
  BBG56937 (Get FASTA)   NCBI Sequence Viewer  
  BBG56938 (Get FASTA)   NCBI Sequence Viewer  
  BBG56939 (Get FASTA)   NCBI Sequence Viewer  
  BBG56940 (Get FASTA)   NCBI Sequence Viewer  
  BBG56941 (Get FASTA)   NCBI Sequence Viewer  
  CAH25983 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000330393
  ENSP00000330393.7
  ENSP00000340884
  ENSP00000340884.8
  ENSP00000360097.1
  ENSP00000360098
  ENSP00000360098.3
  ENSP00000360099
  ENSP00000360099.3
  ENSP00000483390
  ENSP00000483390.1
GenBank Protein P48357 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_002294   ⟸   NM_002303
- Peptide Label: isoform 1 precursor
- UniProtKB: Q92920 (UniProtKB/Swiss-Prot),   Q92919 (UniProtKB/Swiss-Prot),   Q13594 (UniProtKB/Swiss-Prot),   Q13593 (UniProtKB/Swiss-Prot),   Q13592 (UniProtKB/Swiss-Prot),   Q92921 (UniProtKB/Swiss-Prot),   P48357 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001003679   ⟸   NM_001003679
- Peptide Label: isoform 3 precursor
- UniProtKB: A8K2E3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001003680   ⟸   NM_001003680
- Peptide Label: isoform 2 precursor
- UniProtKB: A8K2E3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185618   ⟸   NM_001198689
- Peptide Label: isoform 3 precursor
- UniProtKB: A8K2E3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185616   ⟸   NM_001198687
- Peptide Label: isoform 2 precursor
- UniProtKB: A8K2E3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185617   ⟸   NM_001198688
- Peptide Label: isoform 4 precursor
- UniProtKB: A8K2E3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000360097   ⟸   ENST00000371058
Ensembl Acc Id: ENSP00000360098   ⟸   ENST00000371059
Ensembl Acc Id: ENSP00000360099   ⟸   ENST00000371060
Ensembl Acc Id: ENSP00000330393   ⟸   ENST00000349533
Ensembl Acc Id: ENSP00000483390   ⟸   ENST00000616738
Ensembl Acc Id: ENSP00000340884   ⟸   ENST00000344610
Protein Domains
Fibronectin type-III   Ig-like   Immunoglobulin C2-set-like ligand-binding   Leptin receptor immunoglobulin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48357-F1-model_v2 AlphaFold P48357 1-1165 view protein structure

Promoters
RGD ID:6855784
Promoter ID:EPDNEW_H1057
Type:initiation region
Name:LEPR_2
Description:leptin receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1059  EPDNEW_H1061  EPDNEW_H1066  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,420,668 - 65,420,728EPDNEW
RGD ID:6855788
Promoter ID:EPDNEW_H1059
Type:initiation region
Name:LEPR_3
Description:leptin receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1057  EPDNEW_H1061  EPDNEW_H1066  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,420,701 - 65,420,761EPDNEW
RGD ID:6855792
Promoter ID:EPDNEW_H1061
Type:initiation region
Name:LEPR_4
Description:leptin receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1057  EPDNEW_H1059  EPDNEW_H1066  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,422,501 - 65,422,561EPDNEW
RGD ID:6855802
Promoter ID:EPDNEW_H1066
Type:initiation region
Name:LEPR_1
Description:leptin receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1057  EPDNEW_H1059  EPDNEW_H1061  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,525,651 - 65,525,711EPDNEW
RGD ID:6785930
Promoter ID:HG_KWN:3114
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000344610,   ENST00000406510,   OTTHUMT00000025132,   OTTHUMT00000025133,   OTTHUMT00000025263,   OTTHUMT00000025265,   OTTHUMT00000025275,   OTTHUMT00000025276,   OTTHUMT00000025277,   UC009WAO.1,   UC009WAP.1,   UC009WAQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36165,658,231 - 65,659,132 (+)MPROMDB
RGD ID:6785924
Promoter ID:HG_KWN:3116
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000025278,   UC001DCJ.1,   UC001DCK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36165,763,556 - 65,764,056 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6554 AgrOrtholog
COSMIC LEPR COSMIC
Ensembl Genes ENSG00000116678 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000344610 ENTREZGENE
  ENST00000344610.12 UniProtKB/Swiss-Prot
  ENST00000349533 ENTREZGENE
  ENST00000349533.11 UniProtKB/Swiss-Prot
  ENST00000371058.1 UniProtKB/Swiss-Prot
  ENST00000371059 ENTREZGENE
  ENST00000371059.7 UniProtKB/Swiss-Prot
  ENST00000371060 ENTREZGENE
  ENST00000371060.7 UniProtKB/Swiss-Prot
  ENST00000616738 ENTREZGENE
  ENST00000616738.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116678 GTEx
HGNC ID HGNC:6554 ENTREZGENE
Human Proteome Map LEPR Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hematopoietin_rcpt_Gp130_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hempt_rcpt_S_F1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IgC2-like_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LEP-R_IGD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3953 UniProtKB/Swiss-Prot
NCBI Gene 3953 ENTREZGENE
OMIM 601007 OMIM
PANTHER CYTOKINE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LEPTIN RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lep_receptor_Ig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ObR_Ig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB LEPR RGD, PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMATOPO_REC_L_F2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMATOPO_REC_S_F1 UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U3T571_HUMAN UniProtKB/TrEMBL
  A0A2Z6I6G4_HUMAN UniProtKB/TrEMBL
  A0A2Z6IBQ7_HUMAN UniProtKB/TrEMBL
  A0A387LAK6_HUMAN UniProtKB/TrEMBL
  A0A387LAL5_HUMAN UniProtKB/TrEMBL
  A0A387LAM3_HUMAN UniProtKB/TrEMBL
  A0A387LAN4_HUMAN UniProtKB/TrEMBL
  A0A387LAQ1_HUMAN UniProtKB/TrEMBL
  A0A387LAQ4_HUMAN UniProtKB/TrEMBL
  A0A387LAW1_HUMAN UniProtKB/TrEMBL
  A0A387LBE6_HUMAN UniProtKB/TrEMBL
  A0A387LBG4_HUMAN UniProtKB/TrEMBL
  A0A387LBH1_HUMAN UniProtKB/TrEMBL
  A0A387LBM8_HUMAN UniProtKB/TrEMBL
  A0A387LBR5_HUMAN UniProtKB/TrEMBL
  A0A387LBY6_HUMAN UniProtKB/TrEMBL
  A0A387LBZ8_HUMAN UniProtKB/TrEMBL
  A0A387LC10_HUMAN UniProtKB/TrEMBL
  A0A387LC27_HUMAN UniProtKB/TrEMBL
  A0A4P8P008_HUMAN UniProtKB/TrEMBL
  A2RRQ4_HUMAN UniProtKB/TrEMBL
  A8K2E3 ENTREZGENE, UniProtKB/TrEMBL
  LEPR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q13592 ENTREZGENE
  Q13593 ENTREZGENE
  Q13594 ENTREZGENE
  Q4G138_HUMAN UniProtKB/TrEMBL
  Q92919 ENTREZGENE
  Q92920 ENTREZGENE
  Q92921 ENTREZGENE
UniProt Secondary Q13592 UniProtKB/Swiss-Prot
  Q13593 UniProtKB/Swiss-Prot
  Q13594 UniProtKB/Swiss-Prot
  Q92919 UniProtKB/Swiss-Prot
  Q92920 UniProtKB/Swiss-Prot
  Q92921 UniProtKB/Swiss-Prot