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
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); non-alcoholic fatty 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 Genes
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   LDLPS20_H   LDLPS19_H   LDLPS21_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38165,420,652 - 65,641,559 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl165,420,652 - 65,641,559 (+)EnsemblGRCh38hg38GRCh38
GRCh37165,886,335 - 66,107,242 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,658,906 - 65,875,410 (+)NCBINCBI36hg18NCBI36
Build 34165,598,338 - 65,814,843NCBI
Celera164,176,916 - 64,393,787 (+)NCBI
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 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Albuminuria  (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)
congestive heart failure  (ISO)
coronary artery disease  (IAGP)
Delayed Puberty  (EXP)
diabetes mellitus  (EXP,IAGP)
Diabetic Nephropathies  (EXP)
diabetic neuropathy  (EXP)
dilated cardiomyopathy  (IAGP)
Dyslipidemias  (EXP,ISO)
Experimental Diabetes Mellitus  (EXP)
Experimental Liver Cirrhosis  (ISO)
familial hyperlipidemia  (EXP)
fatty liver disease  (EXP)
Female Infertility  (EXP)
Fibrosis  (EXP)
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)
morbid obesity  (EXP)
Myocardial Ischemia  (IAGP)
Myocardial Reperfusion Injury  (ISO)
Nasal Polyps  (IEP)
nephritis  (EXP)
non-alcoholic fatty liver disease  (IAGP,ISS)
non-alcoholic steatohepatitis  (IAGP)
obesity  (EXP,IAGP,IEA,ISO)
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  (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)
type 2 diabetes mellitus  (EXP,IAGP,ISO)
Varicose Ulcer  (IEP)
Weight Gain  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(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)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acetohydrazide  (ISO)
acetylcholine  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (ISO)
allantoin  (ISO)
allopurinol  (ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
apocynin  (ISO)
aristolochic acid  (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)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromodichloromethane  (ISO)
butanal  (EXP)
butyric acid  (ISO)
caffeine  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
captopril  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroquine  (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)
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)
dobutamine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
estrone  (ISO)
ethanol  (ISO)
ethylmalonic acid  (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)
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)
L-methionine  (ISO)
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)
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)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (ISO)
pirimicarb  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propranolol  (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  (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
aging  (ISO)
angiogenesis  (IMP,ISO)
bone growth  (IEA,ISS)
cell surface receptor signaling pathway  (TAS)
cellular response to organic substance  (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  (IBA,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 hydrolase activity  (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)
wound healing  (ISO)

Cellular Component

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. 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.
2. 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.
3. 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.
4. 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.
5. 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.
6. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
7. The genetics of human obesity. Bell CG, etal., Nat Rev Genet. 2005 Mar;6(3):221-34.
8. 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.
9. 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.
10. 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.
11. 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.
12. 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.
13. 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.
14. 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.
15. 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.
16. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
17. 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.
18. 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.
19. 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.
20. 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.
21. 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.
22. Leptin Promotes Fibroproliferative ARDS by Inhibiting Peroxisome Proliferator-activated Receptor-{gamma} Jain M, etal., Am J Respir Crit Care Med. 2011 Feb 11.
23. Leptin signaling, adiposity, and energy balance. Jequier E Ann N Y Acad Sci 2002 Jun;967:379-88.
24. 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.
25. 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.
26. Genes unlinked to the leptin receptor influence urinary albumin excretion in obese Zucker rats. Kim K, etal., Physiol Genomics. 2010 Feb 16.
27. 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.
28. 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.
29. 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.
30. [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.
31. 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.
32. 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.
33. Association of fat cell size and paracrine growth factors in development of hyperplastic obesity. Marques BG, etal., Am J Physiol 1998 Dec;275(6 Pt 2):R1898-908.
34. Ischemia/reperfusion in rat heart induces leptin and leptin receptor gene expression. Matsui H, etal., Life Sci. 2007 Jan 23;80(7):672-80. Epub 2006 Nov 10.
35. Leptin signalling reduces the severity of cardiac dysfunction and remodelling after chronic ischaemic injury. McGaffin KR, etal., Cardiovasc Res. 2008 Jan;77(1):54-63. Epub 2007 Sep 20.
36. Early development of podocyte injury independently of hyperglycemia and elevations in arterial pressure in nondiabetic obese Dahl SS leptin receptor mutant rats. McPherson KC, etal., Am J Physiol Renal Physiol. 2016 Oct 1;311(4):F793-F804. doi: 10.1152/ajprenal.00590.2015. Epub 2016 Jul 27.
37. Estrogen and raloxifene modulate leptin and its receptor in hypothalamus and adipose tissue from ovariectomized rats. Meli R, etal., Endocrinology. 2004 Jul;145(7):3115-21. Epub 2004 Apr 1.
38. Polymorphism of the 3'-untranslated region of the leptin receptor gene, but not the adiponectin SNP45 polymorphism, predicts type 2 diabetes: a population-based study. Nannipieri M, etal., Diabetes Care. 2006 Nov;29(11):2509-11.
39. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
40. Potential role of leptin in angiogenesis: leptin induces endothelial cell proliferation and expression of matrix metalloproteinases in vivo and in vitro. Park HY, etal., Exp Mol Med. 2001 Jun 30;33(2):95-102.
41. Induction of specific microRNAs inhibits cutaneous wound healing. Pastar I, etal., J Biol Chem. 2012 Aug 24;287(35):29324-35. doi: 10.1074/jbc.M112.382135. Epub 2012 Jul 6.
42. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
43. Frequency of distribution of leptin receptor gene polymorphism in obstructive sleep apnea patients. Popko K, etal., J Physiol Pharmacol. 2007 Nov;58 Suppl 5(Pt 2):551-61.
44. Depletion of macrophages slows the early progression of renal injury in obese Dahl salt-sensitive leptin receptor mutant rats. Poudel B, etal., Am J Physiol Renal Physiol. 2020 Jun 1;318(6):F1489-F1499. doi: 10.1152/ajprenal.00100.2020. Epub 2020 May 11.
45. Rat heart is a site of leptin production and action. Purdham DM, etal., Am J Physiol Heart Circ Physiol. 2004 Dec;287(6):H2877-84. Epub 2004 Jul 29.
46. A neutralizing leptin receptor antibody mitigates hypertrophy and hemodynamic dysfunction in the postinfarcted rat heart. Purdham DM, etal., Am J Physiol Heart Circ Physiol. 2008 Jul;295(1):H441-6. Epub 2008 May 9.
47. The haplotype identified in LEPR gene is associated with type 2 diabetes mellitus in Northern Chinese. Qu Y, etal., Diabetes Res Clin Pract. 2008 Jul;81(1):33-7. Epub 2008 Apr 24.
48. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
49. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
50. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
51. Leptin receptor gene in a large cohort of massively obese subjects: no indication of the fa/fa rat mutation. Detection of an intronic variant with no association with obesity. Rolland V, etal., Obes Res. 1998 Mar;6(2):122-7.
52. Hypertension in obesity and the leptin receptor gene locus. Rosmond R, etal., J Clin Endocrinol Metab. 2000 Sep;85(9):3126-31.
53. Leptin receptor expression in the rat placenta: changes in ob-ra, ob-rb, and ob-re with gestational age and suppression by glucocorticoids. Smith JT and Waddell BJ, Biol Reprod. 2002 Oct;67(4):1204-10.
54. Expression of leptin receptor in nasal polyps: leptin as a mucosecretagogue. Song SY, etal., Laryngoscope. 2010 May;120(5):1046-50.
55. Leptin as a critical regulator of hepatocellular carcinoma development through modulation of human telomerase reverse transcriptase. Stefanou N, etal., BMC Cancer. 2010 Aug 19;10:442. doi: 10.1186/1471-2407-10-442.
56. Leptin receptor isoforms mRNA expression in peripheral blood mononuclear cells from patients with chronic viral hepatitis. Stefanou N, etal., Exp Biol Med (Maywood). 2006 Nov;231(10):1653-63. doi: 10.1177/153537020623101011.
57. Hyperphagia as a mediator of renal disease initiation in obese Zucker rats. Stevenson FT, etal., Obes Res 2001 Aug;9(8):492-9.
58. Leptin affects intestinal epithelial cell turnover in correlation with leptin receptor expression along the villus-crypt axis after massive small bowel resection in a rat. Sukhotnik I, etal., Pediatr Res. 2009 Dec;66(6):648-53.
59. Association of nonalcoholic fatty liver disease with a single nucleotide polymorphism on the gene encoding leptin receptor. Swellam M and Hamdy N, IUBMB Life. 2012 Feb;64(2):180-6. doi: 10.1002/iub.597. Epub 2012 Jan 3.
60. Serum leptin, soluble leptin receptor, free leptin index and bone mineral density in patients with primary biliary cirrhosis. Szalay F, etal., Eur J Gastroenterol Hepatol. 2005 Sep;17(9):923-8.
61. Leptin receptor (Ob-R) expression is induced in peripheral blood mononuclear cells by in vitro activation and in vivo in HIV-infected patients. Sánchez-Margalet V, etal., Clin Exp Immunol. 2002 Jul;129(1):119-24. doi: 10.1046/j.1365-2249.2002.01900.x.
62. Nonsense mutation of leptin receptor in the obese spontaneously hypertensive Koletsky rat. Takaya K, etal., Nat Genet. 1996 Oct;14(2):130-1.
63. Association of polymorphisms in the leptin and leptin receptor genes with inflammatory mediators in patients with osteoporosis. Ye XL and Lu CF, Endocrine. 2013 Oct;44(2):481-8. doi: 10.1007/s12020-013-9899-9. Epub 2013 Mar 5.
64. Impact of leptin receptor gene variants on risk of non-alcoholic fatty liver disease and its interaction with adiponutrin gene. Zain SM, etal., J Gastroenterol Hepatol. 2013 May;28(5):873-9. doi: 10.1111/jgh.12104.
Additional References at PubMed
PMID:8548812   PMID:8608603   PMID:8616721   PMID:8666155   PMID:8743992   PMID:8805376   PMID:8812446   PMID:9061609   PMID:9144432   PMID:9158141   PMID:9175732   PMID:9207021  
PMID:9287054   PMID:9405487   PMID:9537324   PMID:9600917   PMID:9667233   PMID:9786864   PMID:9819414   PMID:9860295   PMID:9929394   PMID:10198230   PMID:10449753   PMID:11003997  
PMID:11018044   PMID:11078732   PMID:11123508   PMID:11279102   PMID:11342028   PMID:11344130   PMID:11354636   PMID:11360155   PMID:11360161   PMID:11380591   PMID:11443193   PMID:11448122  
PMID:11508653   PMID:11549273   PMID:11549688   PMID:11585385   PMID:11729160   PMID:11743056   PMID:11911959   PMID:11994543   PMID:12006639   PMID:12010881   PMID:12032747   PMID:12054170  
PMID:12075576   PMID:12075579   PMID:12086939   PMID:12091248   PMID:12105280   PMID:12140788   PMID:12187394   PMID:12199340   PMID:12226096   PMID:12270921   PMID:12359239   PMID:12364439  
PMID:12396559   PMID:12457453   PMID:12461680   PMID:12477932   PMID:12489569   PMID:12504075   PMID:12512839   PMID:12634434   PMID:12646666   PMID:12660261   PMID:12679465   PMID:12712467  
PMID:12732844   PMID:12734179   PMID:12788897   PMID:12823393   PMID:12824284   PMID:12898374   PMID:14521752   PMID:14599116   PMID:14602796   PMID:14625131   PMID:14636218   PMID:14702039  
PMID:14718574   PMID:14967380   PMID:14970363   PMID:14972512   PMID:14984939   PMID:14998906   PMID:15016839   PMID:15044660   PMID:15123629   PMID:15126576   PMID:15130412   PMID:15131772  
PMID:15132731   PMID:15135067   PMID:15153666   PMID:15159310   PMID:15161768   PMID:15189365   PMID:15192829   PMID:15231747   PMID:15240518   PMID:15240636   PMID:15254881   PMID:15286449  
PMID:15324935   PMID:15337805   PMID:15476448   PMID:15544427   PMID:15564891   PMID:15585384   PMID:15624271   PMID:15660115   PMID:15715521   PMID:15771593   PMID:15784711   PMID:15833934  
PMID:15834329   PMID:15840566   PMID:15869602   PMID:15941977   PMID:15944317   PMID:15950978   PMID:15972940   PMID:15997246   PMID:16011872   PMID:16116438   PMID:16160698   PMID:16169070  
PMID:16231024   PMID:16333525   PMID:16335952   PMID:16352686   PMID:16359991   PMID:16412323   PMID:16482222   PMID:16504019   PMID:16522905   PMID:16533767   PMID:16540470   PMID:16571841  
PMID:16580675   PMID:16609020   PMID:16645018   PMID:16684815   PMID:16788891   PMID:16792872   PMID:16793957   PMID:16807515   PMID:16847749   PMID:16920065   PMID:16971225   PMID:17006991  
PMID:17031518   PMID:17032406   PMID:17071538   PMID:17072067   PMID:17124363   PMID:17142261   PMID:17192493   PMID:17212806   PMID:17285096   PMID:17350295   PMID:17404022   PMID:17415990  
PMID:17428620   PMID:17474147   PMID:17591803   PMID:17615382   PMID:17618952   PMID:17649682   PMID:17680264   PMID:17726024   PMID:17785359   PMID:17828512   PMID:17983356   PMID:17989154  
PMID:18004080   PMID:18042720   PMID:18050615   PMID:18059035   PMID:18086776   PMID:18165436   PMID:18212354   PMID:18241826   PMID:18249219   PMID:18273796   PMID:18282109   PMID:18292831  
PMID:18357374   PMID:18398047   PMID:18426866   PMID:18439548   PMID:18473416   PMID:18490929   PMID:18492761   PMID:18496130   PMID:18510797   PMID:18544975   PMID:18552512   PMID:18573568  
PMID:18636124   PMID:18657007   PMID:18660489   PMID:18668212   PMID:18676680   PMID:18702008   PMID:18703626   PMID:18716353   PMID:18716356   PMID:18828733   PMID:18829234   PMID:18836419  
PMID:18854995   PMID:18855010   PMID:18924534   PMID:18939509   PMID:18941624   PMID:18955751   PMID:18958356   PMID:18978578   PMID:18992263   PMID:18996102   PMID:18997673   PMID:19010916  
PMID:19010917   PMID:19017403   PMID:19023160   PMID:19035456   PMID:19058789   PMID:19060910   PMID:19077438   PMID:19086053   PMID:19140314   PMID:19142102   PMID:19156569   PMID:19167335  
PMID:19170196   PMID:19191138   PMID:19202898   PMID:19208204   PMID:19241089   PMID:19246519   PMID:19273568   PMID:19279251   PMID:19344216   PMID:19367093   PMID:19401628   PMID:19427969  
PMID:19453261   PMID:19491387   PMID:19520793   PMID:19539983   PMID:19567438   PMID:19584180   PMID:19608021   PMID:19622243   PMID:19625176   PMID:19692168   PMID:19697123   PMID:19717488  
PMID:19723917   PMID:19727025   PMID:19747414   PMID:19773373   PMID:19775291   PMID:19818126   PMID:19910644   PMID:19913121   PMID:19913498   PMID:19919993   PMID:19959759   PMID:20008098  
PMID:20032477   PMID:20045163   PMID:20070288   PMID:20149225   PMID:20156757   PMID:20167575   PMID:20178606   PMID:20183928   PMID:20185531   PMID:20213209   PMID:20220325   PMID:20222875  
PMID:20304616   PMID:20347812   PMID:20379614   PMID:20410123   PMID:20416077   PMID:20443680   PMID:20453000   PMID:20455195   PMID:20468064   PMID:20491703   PMID:20502402   PMID:20503258  
PMID:20517895   PMID:20519646   PMID:20538960   PMID:20546344   PMID:20562674   PMID:20565774   PMID:20569445   PMID:20585554   PMID:20591628   PMID:20602615   PMID:20624279   PMID:20628086  
PMID:20679960   PMID:20733583   PMID:20734064   PMID:20739548   PMID:20800603   PMID:20814201   PMID:20855565   PMID:20871818   PMID:20873117   PMID:20874424   PMID:20977476   PMID:21031055  
PMID:21035519   PMID:21050724   PMID:21056886   PMID:21159927   PMID:21162893   PMID:21166956   PMID:21173748   PMID:21204206   PMID:21207066   PMID:21233811   PMID:21233812   PMID:21239736  
PMID:21300955   PMID:21306929   PMID:21334312   PMID:21347230   PMID:21378310   PMID:21393862   PMID:21454707   PMID:21510767   PMID:21512510   PMID:21547863   PMID:21574190   PMID:21575521  
PMID:21584748   PMID:21602135   PMID:21631924   PMID:21648011   PMID:21698367   PMID:21720710   PMID:21744741   PMID:21771332   PMID:21846818   PMID:21870704   PMID:21873635   PMID:21887553  
PMID:21900206   PMID:21921635   PMID:21927908   PMID:21931325   PMID:21931794   PMID:21938427   PMID:21943151   PMID:21948653   PMID:21965750   PMID:21983736   PMID:22028824   PMID:22076163  
PMID:22082804   PMID:22127368   PMID:22207628   PMID:22214336   PMID:22228719   PMID:22261091   PMID:22265003   PMID:22268729   PMID:22278432   PMID:22279209   PMID:22293279   PMID:22328135  
PMID:22362850   PMID:22391636   PMID:22397037   PMID:22411388   PMID:22426215   PMID:22479352   PMID:22537818   PMID:22545089   PMID:22615788   PMID:22647716   PMID:22666733   PMID:22713493  
PMID:22734460   PMID:22746211   PMID:22836631   PMID:22863437   PMID:22898217   PMID:22939635   PMID:22961938   PMID:22975643   PMID:22983835   PMID:22987225   PMID:23009903   PMID:23026206  
PMID:23046934   PMID:23054017   PMID:23070544   PMID:23184927   PMID:23199901   PMID:23266707   PMID:23315873   PMID:23335226   PMID:23355630   PMID:23382219   PMID:23427181   PMID:23429533  
PMID:23475416   PMID:23519368   PMID:23563609   PMID:23564622   PMID:23579009   PMID:23616257   PMID:23622344   PMID:23670889   PMID:23688007   PMID:23688009   PMID:23688014   PMID:23688015  
PMID:23688016   PMID:23688017   PMID:23756394   PMID:23760429   PMID:23769971   PMID:23844046   PMID:23895348   PMID:23954230   PMID:23963458   PMID:23966608   PMID:23969696   PMID:24011638  
PMID:24014051   PMID:24025407   PMID:24051404   PMID:24054064   PMID:24055508   PMID:24084031   PMID:24126952   PMID:24140454   PMID:24146750   PMID:24166957   PMID:24171506   PMID:24206404  
PMID:24293639   PMID:24304572   PMID:24308887   PMID:24319006   PMID:24319309   PMID:24401660   PMID:24402012   PMID:24414038   PMID:24433182   PMID:24468228   PMID:24485307   PMID:24516571  
PMID:24522342   PMID:24525657   PMID:24611737   PMID:24612398   PMID:24624915   PMID:24625355   PMID:24628746   PMID:24631298   PMID:24758911   PMID:24859083   PMID:24882746   PMID:24899470  
PMID:24935373   PMID:24947733   PMID:24985001   PMID:25027400   PMID:25057200   PMID:25060689   PMID:25063754   PMID:25114924   PMID:25130171   PMID:25132099   PMID:25158596   PMID:25171477  
PMID:25223902   PMID:25231870   PMID:25232147   PMID:25261678   PMID:25261679   PMID:25296580   PMID:25306890   PMID:25313970   PMID:25383655   PMID:25539550   PMID:25601511   PMID:25714446  
PMID:25726191   PMID:25740917   PMID:25751111   PMID:25778303   PMID:25778326   PMID:25809704   PMID:25846733   PMID:25906604   PMID:25919692   PMID:26053184   PMID:26064921   PMID:26094585  
PMID:26123401   PMID:26150085   PMID:26152765   PMID:26153131   PMID:26179165   PMID:26186194   PMID:26191329   PMID:26233872   PMID:26242176   PMID:26365669   PMID:26429163   PMID:26478196  
PMID:26556856   PMID:26558825   PMID:26589684   PMID:26590417   PMID:26634459   PMID:26731704   PMID:26804597   PMID:26894859   PMID:26915772   PMID:26925581   PMID:26926121   PMID:27012037  
PMID:27037668   PMID:27105071   PMID:27195302   PMID:27211817   PMID:27240401   PMID:27310420   PMID:27313173   PMID:27393653   PMID:27401061   PMID:27450396   PMID:27457563   PMID:27613336  
PMID:27657457   PMID:27706562   PMID:27768592   PMID:27914811   PMID:27930556   PMID:27983873   PMID:28027635   PMID:28051281   PMID:28064282   PMID:28077420   PMID:28096764   PMID:28169194  
PMID:28188048   PMID:28190851   PMID:28195351   PMID:28244652   PMID:28294581   PMID:28316984   PMID:28350535   PMID:28351089   PMID:28368354   PMID:28419997   PMID:28428959   PMID:28459203  
PMID:28514442   PMID:28596541   PMID:28628399   PMID:28699988   PMID:28717967   PMID:28729389   PMID:28729467   PMID:28771179   PMID:28801068   PMID:28973533   PMID:28975585   PMID:29115533  
PMID:29249663   PMID:29270728   PMID:29293570   PMID:29301582   PMID:29336592   PMID:29363668   PMID:29373433   PMID:29453609   PMID:29545012   PMID:29568105   PMID:29602931   PMID:29660031  
PMID:29679223   PMID:29744713   PMID:29749830   PMID:29883719   PMID:29893028   PMID:29893663   PMID:29910808   PMID:29932990   PMID:29954279   PMID:29964004   PMID:29974828   PMID:30044226  
PMID:30098257   PMID:30126176   PMID:30231898   PMID:30280653   PMID:30442103   PMID:30635060   PMID:30641221   PMID:30763324   PMID:30767572   PMID:30803210   PMID:30807250   PMID:30951821  
PMID:31015393   PMID:31021558   PMID:31046466   PMID:31070016   PMID:31077012   PMID:31128439   PMID:31196966   PMID:31199479   PMID:31237021   PMID:31287259   PMID:31325611   PMID:31372721  
PMID:31615875   PMID:31679272   PMID:31702041   PMID:31704454   PMID:31844100   PMID:31916884   PMID:31948470   PMID:31983119   PMID:32046756   PMID:32047110   PMID:32050106   PMID:32163828  
PMID:32279213   PMID:32377995   PMID:32428570   PMID:32429577   PMID:32512158   PMID:32659237   PMID:32673455   PMID:32698628   PMID:32787464   PMID:32802842   PMID:32807109   PMID:32839413  
PMID:32891006   PMID:33038917   PMID:33091847   PMID:33245096   PMID:33264748   PMID:33369452   PMID:33450350   PMID:33677465   PMID:33762520   PMID:33864589   PMID:33961781   PMID:33988300  
PMID:34176754   PMID:34205732   PMID:34399708   PMID:34452542   PMID:34773742   PMID:34779381   PMID:35052401   PMID:35086395   PMID:35092386   PMID:35115495   PMID:35325792   PMID:35427823  
PMID:35631243  


Genomics

Candidate Gene Status
LEPR is a candidate Gene for QTL BW413_H
LEPR is a candidate Gene for QTL GLUCO303_H
Comparative Map Data
LEPR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38165,420,652 - 65,641,559 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl165,420,652 - 65,641,559 (+)EnsemblGRCh38hg38GRCh38
GRCh37165,886,335 - 66,107,242 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,658,906 - 65,875,410 (+)NCBINCBI36hg18NCBI36
Build 34165,598,338 - 65,814,843NCBI
Celera164,176,916 - 64,393,787 (+)NCBI
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 (+)NCBI
Lepr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394101,574,393 - 101,676,375 (+)NCBIGRCm39mm39
GRCm39 Ensembl4101,574,601 - 101,672,549 (+)Ensembl
GRCm384101,717,137 - 101,815,352 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4101,717,404 - 101,815,352 (+)EnsemblGRCm38mm10GRCm38
MGSCv374101,390,012 - 101,487,959 (+)NCBIGRCm37mm9NCBIm37
MGSCv364101,215,371 - 101,313,237 (+)NCBImm8
Celera4100,061,452 - 100,155,523 (+)NCBICelera
Cytogenetic Map4C6NCBI
cM Map446.96NCBI
Lepr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25116,294,409 - 116,477,904 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl5116,289,823 - 116,475,908 (+)Ensembl
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 - 122,503,449NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.1166,651,994 - 66,764,768 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl166,693,926 - 66,764,768 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0164,772,612 - 64,881,886 (+)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.0544,870,825 - 44,963,640 (-)NCBI
ROS_Cfam_1.0 Ensembl544,875,468 - 44,963,183 (-)Ensembl
UMICH_Zoey_3.1544,840,852 - 44,906,048 (-)NCBI
UNSW_CanFamBas_1.0544,786,008 - 44,851,055 (-)NCBI
UU_Cfam_GSD_1.0545,029,763 - 45,094,688 (-)NCBI
Lepr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505878,634,973 - 78,718,201 (+)NCBI
SpeTri2.0NW_0049365915,771,371 - 5,846,177 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LEPR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6146,798,979 - 146,896,108 (-)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 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2067,454,334 - 67,524,229 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603349,988,602 - 50,125,048 (+)NCBIVero_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_1.0hetGla2
HetGla 1.0NW_00462474229,221,742 - 29,313,273 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
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

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.


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

Reference Sequences
RefSeq Acc Id: ENST00000344610   ⟹   ENSP00000340884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,525,689 - 65,626,234 (+)Ensembl
RefSeq Acc Id: ENST00000349533   ⟹   ENSP00000330393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,420,668 - 65,641,559 (+)Ensembl
RefSeq Acc Id: ENST00000371058   ⟹   ENSP00000360097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,565,546 - 65,626,234 (+)Ensembl
RefSeq Acc Id: ENST00000371059   ⟹   ENSP00000360098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,420,652 - 65,630,422 (+)Ensembl
RefSeq Acc Id: ENST00000371060   ⟹   ENSP00000360099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,420,652 - 65,635,428 (+)Ensembl
RefSeq Acc Id: ENST00000462765
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,525,689 - 65,610,268 (+)Ensembl
RefSeq Acc Id: ENST00000471762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,619,940 - 65,623,384 (+)Ensembl
RefSeq Acc Id: ENST00000616738   ⟹   ENSP00000483390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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  
  P48357 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002294   ⟸   NM_002303
- Peptide Label: isoform 1 precursor
- UniProtKB: P48357 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001003679   ⟸   NM_001003679
- Peptide Label: isoform 3 precursor
- UniProtKB: P48357 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001003680   ⟸   NM_001003680
- Peptide Label: isoform 2 precursor
- UniProtKB: P48357 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001185618   ⟸   NM_001198689
- Peptide Label: isoform 3 precursor
- UniProtKB: P48357 (UniProtKB/Swiss-Prot),   Q4G138 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185616   ⟸   NM_001198687
- Peptide Label: isoform 2 precursor
- UniProtKB: P48357 (UniProtKB/Swiss-Prot),   Q4G138 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185617   ⟸   NM_001198688
- Peptide Label: isoform 4 precursor
- UniProtKB: P48357 (UniProtKB/Swiss-Prot),   Q4G138 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000360097   ⟸   ENST00000371058
RefSeq Acc Id: ENSP00000360098   ⟸   ENST00000371059
RefSeq Acc Id: ENSP00000360099   ⟸   ENST00000371060
RefSeq Acc Id: ENSP00000330393   ⟸   ENST00000349533
RefSeq Acc Id: ENSP00000483390   ⟸   ENST00000616738
RefSeq Acc Id: ENSP00000340884   ⟸   ENST00000344610
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

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 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] Chr1:65636940 [GRCh38]
Chr1:66102623 [GRCh37]
Chr1:1p31.3
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|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_001003679.3(LEPR):c.908C>T (p.Ser303Leu) single nucleotide variant Malignant melanoma [RCV000060236] Chr1:65598718 [GRCh38]
Chr1:66064401 [GRCh37]
Chr1:65836989 [NCBI36]
Chr1:1p31.3
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 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 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 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 Monogenic Non-Syndromic Obesity [RCV000325519]|Monogenic diabetes [RCV000445411]|Obesity due to leptin receptor gene deficiency [RCV000270437]|not specified [RCV001820859] Chr1:65636996 [GRCh38]
Chr1:66102679 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002303.6(LEPR):c.536G>A (p.Gly179Asp) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000259292]|Obesity due to leptin receptor gene deficiency [RCV000379673] Chr1:65592698 [GRCh38]
Chr1:66058381 [GRCh37]
Chr1:1p31.3
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 Monogenic Non-Syndromic Obesity [RCV000395676]|Obesity due to leptin receptor gene deficiency [RCV000352064] Chr1:65598731 [GRCh38]
Chr1:66064414 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr) single nucleotide variant 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_002303.6(LEPR):c.-161C>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_002303.6(LEPR):c.-92C>T 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_002303.6(LEPR):c.-122T>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_002303.6(LEPR):c.-120C>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 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 Obesity due to leptin receptor gene deficiency [RCV001100148] Chr1:65616183 [GRCh38]
Chr1:66081866 [GRCh37]
Chr1:1p31.3
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 Obesity due to leptin receptor gene deficiency [RCV001100150]|not provided [RCV001856359] Chr1:65618011 [GRCh38]
Chr1:66083694 [GRCh37]
Chr1:1p31.3
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 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 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 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.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.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 Monogenic diabetes [RCV000664074] Chr1:65636764 [GRCh38]
Chr1:66102447 [GRCh37]
Chr1:1p31.3
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_002303.6(LEPR):c.-21+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 not provided [RCV000992269] Chr1:65608801 [GRCh38]
Chr1:66074484 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002303.6(LEPR):c.-162C>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 Obesity due to leptin receptor gene deficiency [RCV001096633] Chr1:65601427 [GRCh38]
Chr1:66067110 [GRCh37]
Chr1:1p31.3
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 Disorders [RCV000778251]|not provided [RCV000992270] Chr1:65610029 [GRCh38]
Chr1:66075712 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_002303.6(LEPR):c.371-2_371-1insT insertion LEPR-Related Disorders [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 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 Obesity due to leptin receptor gene deficiency [RCV001100044] Chr1:65570777 [GRCh38]
Chr1:66036460 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002303.6(LEPR):c.1018A>G (p.Ile340Val) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001096632] Chr1:65601415 [GRCh38]
Chr1:66067098 [GRCh37]
Chr1:1p31.3
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
NC_000001.11:g.65420651C>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 Monogenic diabetes [RCV001174408] Chr1:65636435 [GRCh38]
Chr1:66102118 [GRCh37]
Chr1:1p31.3
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 Obesity due to leptin receptor gene deficiency [RCV001098363] Chr1:65616058 [GRCh38]
Chr1:66081741 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002303.6(LEPR):c.2221G>A (p.Val741Met) single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001197965] Chr1:65617972 [GRCh38]
Chr1:66083655 [GRCh37]
Chr1:1p31.3
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
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 specified [RCV001663439] Chr1:65608737 [GRCh38]
Chr1:66074420 [GRCh37]
Chr1:1p31.3
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] Chr1:65572317 [GRCh38]
Chr1:66038000 [GRCh37]
Chr1:1p31.3
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 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 Monogenic diabetes [RCV001174406] Chr1:65592820 [GRCh38]
Chr1:66058503 [GRCh37]
Chr1:1p31.3
likely benign
NM_002303.6(LEPR):c.704-8T>C single nucleotide variant Obesity due to leptin receptor gene deficiency [RCV001102034] Chr1:65596440 [GRCh38]
Chr1:66062123 [GRCh37]
Chr1:1p31.3
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_002303.6(LEPR):c.-51T>G 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 Obesity due to leptin receptor gene deficiency [RCV001098361] Chr1:65608784 [GRCh38]
Chr1:66074467 [GRCh37]
Chr1:1p31.3
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 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</