MC4R (melanocortin 4 receptor) - Rat Genome Database

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Gene: MC4R (melanocortin 4 receptor) Homo sapiens
Analyze
Symbol: MC4R
Name: melanocortin 4 receptor
RGD ID: 733058
HGNC Page HGNC:6932
Description: Enables melanocyte-stimulating hormone receptor activity; neuropeptide binding activity; and ubiquitin protein ligase binding activity. Involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway and positive regulation of bone resorption. Predicted to be located in membrane. Predicted to be active in cytoplasm and plasma membrane. Implicated in morbid obesity and obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BMIQ20; MC4-R; melanocortin receptor 4; MGC126851; MGC138197; mutant melanocortin-4 receptor
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
Candidate Gene For: BW246_H ACTIV2_H FOCO1_H ACTIV1_H BW510_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381860,371,062 - 60,372,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1860,371,062 - 60,372,775 (-)EnsemblGRCh38hg38GRCh38
GRCh371858,038,295 - 58,040,008 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361856,189,544 - 56,190,981 (-)NCBINCBI36Build 36hg18NCBI36
Build 341856,189,563 - 56,190,562NCBI
Celera1854,756,638 - 54,758,075 (-)NCBICelera
Cytogenetic Map18q21.32NCBI
HuRef1854,747,886 - 54,749,323 (-)NCBIHuRef
CHM1_11858,034,197 - 58,035,634 (-)NCBICHM1_1
T2T-CHM13v2.01860,574,034 - 60,575,747 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

References - curated
# Reference Title Reference Citation
1. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. Leptin resistance and desensitization of hypophagia during prolonged inflammatory challenge. Borges BC, etal., Am J Physiol Endocrinol Metab. 2011 May;300(5):E858-69. Epub 2011 Feb 22.
3. Binge eating as a major phenotype of melanocortin 4 receptor gene mutations. Branson R, etal., N Engl J Med. 2003 Mar 20;348(12):1096-103.
4. The melanocortin system in control of inflammation. Catania A, etal., ScientificWorldJournal. 2010 Sep 14;10:1840-53.
5. Linkage and association studies between the melanocortin receptors 4 and 5 genes and obesity-related phenotypes in the Quebec Family Study. Chagnon YC, etal., Mol Med. 1997 Oct;3(10):663-73.
6. Melanocortin 4 receptor induces hyperalgesia and allodynia after chronic constriction injury by activation of p38 MAPK in DRG. Chu H, etal., Int J Neurosci. 2012 Feb;122(2):74-81. Epub 2011 Nov 24.
7. Perinatal exposure to environmental endocrine disruptor bisphenol A aggravates the onset of non-alcoholic fatty liver disease (NAFLD) in weanling F1 offspring of obese rats. Dabeer S and Raisuddin S, Environ Sci Pollut Res Int. 2023 Jan;30(2):3146-3165. doi: 10.1007/s11356-022-22246-y. Epub 2022 Aug 9.
8. Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. Farooqi IS, etal., N Engl J Med. 2003 Mar 20;348(12):1085-95.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. Expression of new loci associated with obesity in diet-induced obese rats: from genetics to physiology. Gutierrez-Aguilar R, etal., Obesity (Silver Spring). 2012 Feb;20(2):306-12. doi: 10.1038/oby.2011.236. Epub 2011 Jul 21.
11. Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Huszar D, etal., Cell. 1997 Jan 10;88(1):131-41.
12. Melanocortin receptors in rat liver cells: change of gene expression and intracellular localization during acute-phase response. Malik IA, etal., Histochem Cell Biol. 2012 Mar;137(3):279-91. Epub 2011 Dec 20.
13. A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity. Mergen M, etal., J Clin Endocrinol Metab. 2001 Jul;86(7):3448.
14. Melanocortin receptor 4 deficiency affects body weight regulation, grooming behavior, and substrate preference in the rat. Mul JD, etal., Obesity (Silver Spring). 2012 Mar;20(3):612-21. doi: 10.1038/oby.2011.81. Epub 2011 Apr 28.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
17. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
19. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
20. Genetic and pharmacologic blockade of central melanocortin signaling attenuates cardiac cachexia in rodent models of heart failure. Scarlett JM, etal., J Endocrinol. 2010 Jul;206(1):121-30. Epub 2010 Apr 6.
21. The critical role of the melanocortin system in the control of energy balance. Seeley RJ, etal., Annu Rev Nutr 2004;24:133-49.
22. Peripheral antinociceptive effects of MC4 receptor antagonists in a rat model of neuropathic pain - a biochemical and behavioral study. Starowicz K, etal., Pharmacol Rep. 2009 Nov-Dec;61(6):1086-95.
23. Vascular effects of deletion of melanocortin-4 receptors in rats. Stepp DW, etal., Physiol Rep. 2013 Nov;1(6):e00146. doi: 10.1002/phy2.146. Epub 2013 Nov 13.
24. Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. Yeo GS, etal., Hum Mol Genet. 2003 Mar 1;12(5):561-74.
Additional References at PubMed
PMID:7854347   PMID:7949735   PMID:8392067   PMID:8794897   PMID:9058374   PMID:9763669   PMID:9771698   PMID:9771699   PMID:10199800   PMID:10318826   PMID:10585465   PMID:11101306  
PMID:11487744   PMID:11692184   PMID:11747427   PMID:11823452   PMID:11912210   PMID:12015205   PMID:12032748   PMID:12036966   PMID:12045190   PMID:12140789   PMID:12165561   PMID:12244039  
PMID:12364415   PMID:12477932   PMID:12499395   PMID:12620396   PMID:12629567   PMID:12639913   PMID:12690102   PMID:12732337   PMID:12815165   PMID:12959994   PMID:12970296   PMID:13678297  
PMID:14504270   PMID:14523020   PMID:14531729   PMID:14633862   PMID:14671178   PMID:14764812   PMID:14764818   PMID:14973783   PMID:15037865   PMID:15126516   PMID:15215606   PMID:15292469  
PMID:15448103   PMID:15466016   PMID:15470082   PMID:15486053   PMID:15489334   PMID:15489963   PMID:15533382   PMID:15585384   PMID:15597110   PMID:15805150   PMID:15821099   PMID:15865442  
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PMID:20881960   PMID:20935630   PMID:20957447   PMID:20966902   PMID:20966905   PMID:20975296   PMID:21046283   PMID:21047921   PMID:21063808   PMID:21085626   PMID:21094029   PMID:21207518  
PMID:21211532   PMID:21222259   PMID:21283731   PMID:21303735   PMID:21347432   PMID:21404042   PMID:21544599   PMID:21625854   PMID:21719532   PMID:21720444   PMID:21729752   PMID:21736789  
PMID:21738238   PMID:21750520   PMID:21818152   PMID:21822216   PMID:21873635   PMID:21921652   PMID:21935397   PMID:21976721   PMID:21988832   PMID:22013104   PMID:22020349   PMID:22106157  
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PMID:38003551   PMID:38197679  


Genomics

Comparative Map Data
MC4R
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381860,371,062 - 60,372,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1860,371,062 - 60,372,775 (-)EnsemblGRCh38hg38GRCh38
GRCh371858,038,295 - 58,040,008 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361856,189,544 - 56,190,981 (-)NCBINCBI36Build 36hg18NCBI36
Build 341856,189,563 - 56,190,562NCBI
Celera1854,756,638 - 54,758,075 (-)NCBICelera
Cytogenetic Map18q21.32NCBI
HuRef1854,747,886 - 54,749,323 (-)NCBIHuRef
CHM1_11858,034,197 - 58,035,634 (-)NCBICHM1_1
T2T-CHM13v2.01860,574,034 - 60,575,747 (-)NCBIT2T-CHM13v2.0
Mc4r
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391866,990,776 - 66,993,558 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1866,990,775 - 66,993,577 (-)EnsemblGRCm39 Ensembl
GRCm381866,857,705 - 66,860,487 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1866,857,704 - 66,860,506 (-)EnsemblGRCm38mm10GRCm38
MGSCv371867,017,359 - 67,020,126 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361866,983,074 - 66,985,841 (-)NCBIMGSCv36mm8
Celera1868,131,723 - 68,134,491 (-)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1839.72NCBI
Mc4r
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81862,689,798 - 62,691,685 (-)NCBIGRCr8
mRatBN7.21860,419,832 - 60,421,719 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1860,419,832 - 60,421,719 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1862,493,750 - 62,495,636 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01863,192,468 - 63,194,354 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01861,044,927 - 61,046,814 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01862,612,838 - 62,614,725 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1862,612,838 - 62,614,725 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01861,799,166 - 61,801,053 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41863,390,922 - 63,392,809 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11863,464,122 - 63,465,631 (-)NCBI
Celera1858,529,070 - 58,530,957 (-)NCBICelera
RH 3.4 Map18610.4RGD
Cytogenetic Map18q12.1NCBI
Mc4r
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540244,455,294 - 44,456,292 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540244,453,973 - 44,456,689 (-)NCBIChiLan1.0ChiLan1.0
MC4R
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21777,895,644 - 77,900,374 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11863,588,255 - 63,592,920 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01853,744,172 - 53,747,282 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11857,069,089 - 57,070,670 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1857,069,259 - 57,070,257 (-)Ensemblpanpan1.1panPan2
MC4R
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1116,131,829 - 16,132,827 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl116,131,589 - 16,133,079 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha117,102,321 - 17,103,318 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0116,003,681 - 16,004,679 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl116,003,441 - 16,004,931 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1116,032,383 - 16,033,381 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0115,964,379 - 15,965,377 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0116,214,421 - 16,215,419 (+)NCBIUU_Cfam_GSD_1.0
Mc4r
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494429,397,280 - 29,400,818 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364974,636,758 - 4,637,759 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364974,636,370 - 4,638,205 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MC4R
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1160,772,013 - 160,774,124 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11160,772,013 - 160,774,124 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21178,553,488 - 178,555,752 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MC4R
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11819,380,054 - 19,386,412 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1819,380,849 - 19,381,847 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660606,249,695 - 6,251,517 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mc4r
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247925,866,119 - 5,867,120 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247925,865,902 - 5,867,498 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

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Variants in MC4R
123 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005912.3(MC4R):c.631_634del (p.Leu211fs) microsatellite BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015392]|MC4R-related condition [RCV003407336] Chr18:60371716..60371719 [GRCh38]
Chr18:58038949..58038952 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.732_735dup (p.Thr246fs) duplication BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015393] Chr18:60371614..60371615 [GRCh38]
Chr18:58038847..58038848 [GRCh37]
Chr18:18q21.32
pathogenic
MC4R, 1-BP INS, 112A insertion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015401] Chr18:18q22 pathogenic
MC4R, 4-BP DEL, 211CTCT deletion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015402] Chr18:18q22 pathogenic
MC4R, 2-BP INS, 279GT insertion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015403] Chr18:18q22 pathogenic
NM_005912.3(MC4R):c.374_375inv (p.Ile125Lys) inversion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015404] Chr18:60371975..60371976 [GRCh38]
Chr18:58039208..58039209 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.265_279del (p.Ala89_Val93del) deletion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015411] Chr18:60372071..60372085 [GRCh38]
Chr18:58039304..58039318 [GRCh37]
Chr18:18q21.32
pathogenic
MC4R, 2-BP DEL, 750GA deletion Obesity [RCV000015413] Chr18:18q22 pathogenic
NM_005912.3(MC4R):c.690del (p.Gly231fs) deletion not provided [RCV000521516] Chr18:60371660 [GRCh38]
Chr18:58038893 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002504792]|Obesity [RCV000015394]|Schizophrenia [RCV000202583]|not provided [RCV000255005] Chr18:60372245 [GRCh38]
Chr18:58039478 [GRCh37]
Chr18:18q21.32
pathogenic|uncertain significance
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001262822]|Obesity [RCV000015395]|not provided [RCV001699179]|not specified [RCV000435394] Chr18:60372240 [GRCh38]
Chr18:58039473 [GRCh37]
Chr18:18q21.32
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_005912.3(MC4R):c.148G>A (p.Val50Met) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015396] Chr18:60372202 [GRCh38]
Chr18:58039435 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.172A>T (p.Ser58Cys) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015397] Chr18:60372178 [GRCh38]
Chr18:58039411 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.305T>G (p.Ile102Ser) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015398] Chr18:60372045 [GRCh38]
Chr18:58039278 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015399]|MC4R-related condition [RCV003407337] Chr18:60371842 [GRCh38]
Chr18:58039075 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic|uncertain significance
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015400]|Obesity [RCV001125885]|not provided [RCV001531447] Chr18:60371529 [GRCh38]
Chr18:58038762 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic|uncertain significance
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000768578]|Obesity [RCV000015405] Chr18:60371538 [GRCh38]
Chr18:58038771 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000768579]|MC4R-related condition [RCV003415708]|Obesity [RCV000015406]|not provided [RCV002513063]|not specified [RCV002247343] Chr18:60371827 [GRCh38]
Chr18:58039060 [GRCh37]
Chr18:18q21.32
pathogenic|benign|uncertain significance
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015407]|Obesity [RCV000778539] Chr18:60371403 [GRCh38]
Chr18:58038636 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015408] Chr18:60371489 [GRCh38]
Chr18:58038722 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.289A>G (p.Asn97Asp) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015409] Chr18:60372061 [GRCh38]
Chr18:58039294 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.185A>G (p.Asn62Ser) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015410] Chr18:60372165 [GRCh38]
Chr18:58039398 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000768580]|Obesity [RCV000015412]|not provided [RCV000414065] Chr18:60371970 [GRCh38]
Chr18:58039203 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005912.3(MC4R):c.656C>T (p.Ala219Val) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015414] Chr18:60371694 [GRCh38]
Chr18:58038927 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.538T>C (p.Ser180Pro) single nucleotide variant Obesity [RCV000030155] Chr18:60371812 [GRCh38]
Chr18:58039045 [GRCh37]
Chr18:18q21.32
likely pathogenic
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) single nucleotide variant Inherited obesity [RCV003323279]|Monogenic diabetes [RCV000445401]|Obesity [RCV000030156]|not provided [RCV000889153]|not specified [RCV000610107] Chr18:60371744 [GRCh38]
Chr18:58038977 [GRCh37]
Chr18:18q21.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005912.3(MC4R):c.677T>C (p.Ile226Thr) single nucleotide variant Obesity [RCV000030157] Chr18:60371673 [GRCh38]
Chr18:58038906 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002285259]|Obesity [RCV000030158]|not provided [RCV000906648]|not specified [RCV000499660] Chr18:60371544 [GRCh38]
Chr18:58038777 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) microsatellite BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002496462]|MC4R-related condition [RCV003415745]|Obesity [RCV000030159]|not provided [RCV002281046] Chr18:60371513..60371514 [GRCh38]
Chr18:58038746..58038747 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.896C>A (p.Pro299His) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001781324]|MC4R-related condition [RCV003430643]|Obesity [RCV000030160]|not provided [RCV002281047] Chr18:60371454 [GRCh38]
Chr18:58038687 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1
pathogenic
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001756121]|Monogenic diabetes [RCV000664153]|Obesity [RCV000709739] Chr18:60371601 [GRCh38]
Chr18:58038834 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic|uncertain significance
NC_000018.9:g.57851097T>C single nucleotide variant antipsychotics response - Toxicity/ADR [RCV000211281] Chr18:60183864 [GRCh38]
Chr18:57851097 [GRCh37]
Chr18:18q21.32
drug response
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 copy number loss See cases [RCV000136501] Chr18:54857756..60590631 [GRCh38]
Chr18:52524987..58257864 [GRCh37]
Chr18:50675985..56408844 [NCBI36]
Chr18:18q21.2-21.32
pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1
pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 copy number loss See cases [RCV000139669] Chr18:59996934..80254946 [GRCh38]
Chr18:57664166..78012829 [GRCh37]
Chr18:55815146..76113817 [NCBI36]
Chr18:18q21.32-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3
pathogenic
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002500636]|Monogenic diabetes [RCV000445524]|Obesity [RCV000202590]|not provided [RCV000419291]|not specified [RCV000501342] Chr18:60371599 [GRCh38]
Chr18:58038832 [GRCh37]
Chr18:18q21.32
benign|likely benign|conflicting interpretations of pathogenicity|protective|uncertain significance
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001778791]|MELANOCORTIN 4 RECEPTOR POLYMORPHISM [RCV000768671]|Monogenic diabetes [RCV000445452]|OBESITY, RESISTANCE TO [RCV000768672]|Obesity [RCV000202600]|not provided [RCV002057039]|not specified [RCV001699064] Chr18:60372043 [GRCh38]
Chr18:58039276 [GRCh37]
Chr18:18q21.32
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|protective
GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3 copy number gain See cases [RCV000143195] Chr18:59909593..72609801 [GRCh38]
Chr18:57576825..70277036 [GRCh37]
Chr18:55727805..68428016 [NCBI36]
Chr18:18q21.32-22.3
likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
NM_005912.3(MC4R):c.972C>T (p.Gly324=) single nucleotide variant Obesity [RCV001124913]|not specified [RCV000192958] Chr18:60371378 [GRCh38]
Chr18:58038611 [GRCh37]
Chr18:18q21.32
likely benign|uncertain significance
NM_005912.3(MC4R):c.206T>G (p.Ile69Arg) single nucleotide variant Obesity, autosomal dominant [RCV000194758] Chr18:60372144 [GRCh38]
Chr18:58039377 [GRCh37]
Chr18:18q21.32
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005912.3(MC4R):c.594C>T (p.Ile198=) single nucleotide variant Obesity [RCV000385624]|not provided [RCV000712269]|not specified [RCV000241630] Chr18:60371756 [GRCh38]
Chr18:58038989 [GRCh37]
Chr18:18q21.32
benign|likely benign
GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1 copy number loss See cases [RCV000240432] Chr18:58014591..68158862 [GRCh37]
Chr18:18q21.32-22.2
pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
NM_005912.3(MC4R):c.-386G>A single nucleotide variant Obesity [RCV000301442] Chr18:60372735 [GRCh38]
Chr18:58039968 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-60C>G single nucleotide variant Obesity [RCV000284094] Chr18:60372409 [GRCh38]
Chr18:58039642 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002288974]|Obesity [RCV000332082] Chr18:60371856 [GRCh38]
Chr18:58039089 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.-220G>A single nucleotide variant Obesity [RCV000354941] Chr18:60372569 [GRCh38]
Chr18:58039802 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.776C>T (p.Ala259Val) single nucleotide variant Obesity [RCV000261976] Chr18:60371574 [GRCh38]
Chr18:58038807 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-178A>C single nucleotide variant Obesity [RCV000304907] Chr18:60372527 [GRCh38]
Chr18:58039760 [GRCh37]
Chr18:18q21.32
benign|likely benign
NM_005912.3(MC4R):c.817C>T (p.Gln273Ter) single nucleotide variant not provided [RCV000519708] Chr18:60371533 [GRCh38]
Chr18:58038766 [GRCh37]
Chr18:18q21.32
likely pathogenic
NM_005912.3(MC4R):c.815C>T (p.Pro272Leu) single nucleotide variant not provided [RCV003314823] Chr18:60371535 [GRCh38]
Chr18:58038768 [GRCh37]
Chr18:18q21.32
likely pathogenic
NM_005912.3(MC4R):c.-18T>C single nucleotide variant Obesity [RCV000347091] Chr18:60372367 [GRCh38]
Chr18:58039600 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.890T>A (p.Ile297Asn) single nucleotide variant not specified [RCV000517999] Chr18:60371460 [GRCh38]
Chr18:58038693 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-375G>T single nucleotide variant Obesity [RCV000408193] Chr18:60372724 [GRCh38]
Chr18:58039957 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-161C>T single nucleotide variant Obesity [RCV000408208] Chr18:60372510 [GRCh38]
Chr18:58039743 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.201G>A (p.Val67=) single nucleotide variant Obesity [RCV000287700] Chr18:60372149 [GRCh38]
Chr18:58039382 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-66C>T single nucleotide variant Obesity [RCV000339114] Chr18:60372415 [GRCh38]
Chr18:58039648 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001027999]|not provided [RCV000596154] Chr18:60371865 [GRCh38]
Chr18:58039098 [GRCh37]
Chr18:18q21.32
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) single nucleotide variant Obesity [RCV000582060] Chr18:60372189 [GRCh38]
Chr18:58039422 [GRCh37]
Chr18:18q21.32
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005912.3(MC4R):c.880A>C (p.Asn294His) single nucleotide variant not specified [RCV000516897] Chr18:60371470 [GRCh38]
Chr18:58038703 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) deletion Obesity [RCV000582390] Chr18:60372286..60372287 [GRCh38]
Chr18:58039519..58039520 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) single nucleotide variant Obesity [RCV000582762]|not specified [RCV001821706] Chr18:60371593 [GRCh38]
Chr18:58038826 [GRCh37]
Chr18:18q21.32
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005912.3(MC4R):c.838T>C (p.Phe280Leu) single nucleotide variant Obesity [RCV000582923] Chr18:60371512 [GRCh38]
Chr18:58038745 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.914G>A (p.Arg305Gln) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002477369]|Obesity [RCV000627689] Chr18:60371436 [GRCh38]
Chr18:58038669 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001753845]|not provided [RCV000413435] Chr18:60371539 [GRCh38]
Chr18:58038772 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 copy number loss See cases [RCV000449209] Chr18:55793243..68705548 [GRCh37]
Chr18:18q21.31-22.3
pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23
likely pathogenic
NM_005912.3(MC4R):c.281G>A (p.Ser94Asn) single nucleotide variant not provided [RCV000432683] Chr18:60372069 [GRCh38]
Chr18:58039302 [GRCh37]
Chr18:18q21.32
likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
NC_000018.9:g.57882787C>A single nucleotide variant amisulpride response - Toxicity/ADR [RCV000211314]|aripiprazole response - Toxicity/ADR [RCV000211401]|clozapine response - Toxicity/ADR [RCV000211221]|haloperidol response - Toxicity/ADR [RCV000211305]|olanzapine response - Toxicity/ADR [RCV000211428]|paliperidone response - Toxicity/ADR [RCV000211214]|quetiapine response - Toxicity/ADR [RCV000211337]|risperidone response - Toxicity/ADR [RCV000211159]|ziprasidone response - Toxicity/ADR [RCV000211203] Chr18:60215554 [GRCh38]
Chr18:57882787 [GRCh37]
Chr18:18q21.32
drug response
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23
pathogenic
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002481622]|MC4R-related condition [RCV003403168]|Obesity [RCV000582643]|Obesity, autosomal dominant [RCV000503229]|not provided [RCV001378257] Chr18:60371901 [GRCh38]
Chr18:58039134 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV003144296]|MC4R-related condition [RCV003409697]|Obesity [RCV000583759]|Obesity, autosomal dominant [RCV000501559]|not provided [RCV000518806] Chr18:60372169 [GRCh38]
Chr18:58039402 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
NM_005912.3(MC4R):c.239A>G (p.Tyr80Cys) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002490836]|MC4R-related condition [RCV003409696]|not provided [RCV001857128]|not specified [RCV000499779] Chr18:60372111 [GRCh38]
Chr18:58039344 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) deletion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015413]|Obesity [RCV001249014]|Obesity, autosomal dominant [RCV000500812]|not provided [RCV002510907] Chr18:60371599..60371600 [GRCh38]
Chr18:58038832..58038833 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.827A>G (p.Tyr276Cys) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002476007]|MC4R-related condition [RCV003419864]|not specified [RCV000503100] Chr18:60371523 [GRCh38]
Chr18:58038756 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1
pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV000768454] Chr18:58024137..77996821 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23
pathogenic
NM_005912.3(MC4R):c.883T>C (p.Ser295Pro) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002499143]|Monogenic diabetes [RCV000664152] Chr18:60371467 [GRCh38]
Chr18:58038700 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001262853]|Monogenic diabetes [RCV000754806]|Obesity [RCV000709738]|not provided [RCV000681814] Chr18:60371884 [GRCh38]
Chr18:58039117 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.983T>A (p.Leu328Ter) single nucleotide variant MC4R-related condition [RCV003411650]|not provided [RCV000712271] Chr18:60371367 [GRCh38]
Chr18:58038600 [GRCh37]
Chr18:18q21.32
pathogenic|uncertain significance
NM_005912.3(MC4R):c.495G>A (p.Arg165=) single nucleotide variant not provided [RCV000712268] Chr18:60371855 [GRCh38]
Chr18:58039088 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) single nucleotide variant Obesity [RCV001249094]|not provided [RCV000712270] Chr18:60371437 [GRCh38]
Chr18:58038670 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 copy number loss not provided [RCV000739822] Chr18:51036415..59275480 [GRCh37]
Chr18:18q21.2-21.33
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.32-22.1(chr18:57244903-63722436)x1 copy number loss not provided [RCV000752355] Chr18:57244903..63722436 [GRCh37]
Chr18:18q21.32-22.1
benign
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 copy number loss not provided [RCV000752356] Chr18:57244903..77325446 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.32(chr18:57629472-58135000)x3 copy number gain not provided [RCV000752358] Chr18:57629472..58135000 [GRCh37]
Chr18:18q21.32
benign
NM_005912.3(MC4R):c.335C>T (p.Thr112Met) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002468091]|Obesity [RCV001122229]|not provided [RCV000884259] Chr18:60372015 [GRCh38]
Chr18:58039248 [GRCh37]
Chr18:18q21.32
likely benign|uncertain significance
NM_005912.3(MC4R):c.368A>G (p.Asn123Ser) single nucleotide variant not provided [RCV000973582] Chr18:60371982 [GRCh38]
Chr18:58039215 [GRCh37]
Chr18:18q21.32
likely benign
NM_005912.3(MC4R):c.496G>A (p.Val166Ile) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001536081]|Obesity [RCV000755003] Chr18:60371854 [GRCh38]
Chr18:58039087 [GRCh37]
Chr18:18q21.32
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.32(chr18:57940764-58095560)x1 copy number loss See cases [RCV000790578] Chr18:57940764..58095560 [GRCh37]
Chr18:18q21.32
pathogenic
MC4R, VAL103ILE (rs2229616) single nucleotide variant MELANOCORTIN 4 RECEPTOR POLYMORPHISM [RCV000768671]|OBESITY, RESISTANCE TO [RCV000768672] Chr18:18q21.32 benign|protective
NM_005912.3(MC4R):c.474T>C (p.His158=) single nucleotide variant not provided [RCV000920475] Chr18:60371876 [GRCh38]
Chr18:58039109 [GRCh37]
Chr18:18q21.32
likely benign
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33
pathogenic
NM_005912.3(MC4R):c.-176A>G single nucleotide variant Obesity [RCV001125007] Chr18:60372525 [GRCh38]
Chr18:58039758 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.373A>G (p.Ile125Val) single nucleotide variant Obesity [RCV001127994] Chr18:60371977 [GRCh38]
Chr18:58039210 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.929G>A (p.Arg310Lys) single nucleotide variant Obesity [RCV001125883] Chr18:60371421 [GRCh38]
Chr18:58038654 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.836G>A (p.Cys279Tyr) single nucleotide variant Obesity [RCV001125884] Chr18:60371514 [GRCh38]
Chr18:58038747 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.655G>T (p.Ala219Ser) single nucleotide variant Obesity [RCV001125887] Chr18:60371695 [GRCh38]
Chr18:58038928 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.727G>A (p.Gly243Arg) single nucleotide variant not provided [RCV003233137] Chr18:60371623 [GRCh38]
Chr18:58038856 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001823788]|MC4R-related condition [RCV003416408]|not provided [RCV001700559] Chr18:60371857 [GRCh38]
Chr18:58039090 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.*252A>G single nucleotide variant not provided [RCV001530206] Chr18:60371099 [GRCh38]
Chr18:58038332 [GRCh37]
Chr18:18q21.32
benign
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23
pathogenic
NM_005912.3(MC4R):c.837C>T (p.Cys279=) single nucleotide variant not provided [RCV000910088]|not specified [RCV001664546] Chr18:60371513 [GRCh38]
Chr18:58038746 [GRCh37]
Chr18:18q21.32
likely benign
NM_005912.3(MC4R):c.468G>A (p.Gln156=) single nucleotide variant Obesity [RCV001127992]|not provided [RCV000926386] Chr18:60371882 [GRCh38]
Chr18:58039115 [GRCh37]
Chr18:18q21.32
benign|likely benign
NM_005912.3(MC4R):c.21T>C (p.Arg7=) single nucleotide variant Obesity [RCV001122230] Chr18:60372329 [GRCh38]
Chr18:58039562 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.534G>A (p.Thr178=) single nucleotide variant Obesity [RCV001127991] Chr18:60371816 [GRCh38]
Chr18:58039049 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.949A>T (p.Ile317Phe) single nucleotide variant Obesity [RCV001124914] Chr18:60371401 [GRCh38]
Chr18:58038634 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.31A>G (p.Thr11Ala) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002483937]|MC4R-related condition [RCV003396788]|Monogenic diabetes [RCV001174413] Chr18:60372319 [GRCh38]
Chr18:58039552 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.915G>A (p.Arg305=) single nucleotide variant not provided [RCV000911329] Chr18:60371435 [GRCh38]
Chr18:58038668 [GRCh37]
Chr18:18q21.32
likely benign
NM_005912.3(MC4R):c.272T>G (p.Met91Arg) single nucleotide variant Obesity [RCV002464552] Chr18:60372078 [GRCh38]
Chr18:58039311 [GRCh37]
Chr18:18q21.32
likely pathogenic
NM_005912.3(MC4R):c.815C>G (p.Pro272Arg) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002505703]|Obesity [RCV001125886] Chr18:60371535 [GRCh38]
Chr18:58038768 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.719A>G (p.Asn240Ser) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002497608]|MC4R-related condition [RCV003396787]|Monogenic diabetes [RCV001174412]|not provided [RCV002559675] Chr18:60371631 [GRCh38]
Chr18:58038864 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.14C>A (p.Thr5Asn) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002483938]|Monogenic diabetes [RCV001174414] Chr18:60372336 [GRCh38]
Chr18:58039569 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.645G>A (p.Met215Ile) single nucleotide variant Obesity [RCV001127990] Chr18:60371705 [GRCh38]
Chr18:58038938 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.585C>G (p.Ile195Met) single nucleotide variant not specified [RCV001195614] Chr18:60371765 [GRCh38]
Chr18:58038998 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.15C>T (p.Thr5=) single nucleotide variant Obesity [RCV001122231] Chr18:60372335 [GRCh38]
Chr18:58039568 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-59G>A single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002482226]|Obesity [RCV001122232] Chr18:60372408 [GRCh38]
Chr18:58039641 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23
pathogenic
NM_005912.3(MC4R):c.902T>C (p.Ile301Thr) single nucleotide variant not provided [RCV001215751] Chr18:60371448 [GRCh38]
Chr18:58038681 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.-121G>A single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002491390]|Obesity [RCV001125006] Chr18:60372470 [GRCh38]
Chr18:58039703 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-216C>T single nucleotide variant Obesity [RCV001125008] Chr18:60372565 [GRCh38]
Chr18:58039798 [GRCh37]
Chr18:18q21.32
benign
NM_005912.3(MC4R):c.-263A>G single nucleotide variant Obesity [RCV001125989] Chr18:60372612 [GRCh38]
Chr18:58039845 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-295A>G single nucleotide variant Obesity [RCV001125990] Chr18:60372644 [GRCh38]
Chr18:58039877 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-359C>A single nucleotide variant Obesity [RCV001125991] Chr18:60372708 [GRCh38]
Chr18:58039941 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-360G>A single nucleotide variant Obesity [RCV001125992] Chr18:60372709 [GRCh38]
Chr18:58039942 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.405A>C (p.Ala135=) single nucleotide variant Obesity [RCV001127993]|not specified [RCV001819835] Chr18:60371945 [GRCh38]
Chr18:58039178 [GRCh37]
Chr18:18q21.32
likely benign|uncertain significance
NM_005912.3(MC4R):c.-64G>A single nucleotide variant Obesity [RCV001125005] Chr18:60372413 [GRCh38]
Chr18:58039646 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.779C>A (p.Pro260Gln) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001253485]|not provided [RCV001699526] Chr18:60371571 [GRCh38]
Chr18:58038804 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.407C>T (p.Ser136Phe) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001253372] Chr18:60371943 [GRCh38]
Chr18:58039176 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.542G>A (p.Gly181Asp) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001253592] Chr18:60371808 [GRCh38]
Chr18:58039041 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005912.3(MC4R):c.691G>A (p.Gly231Ser) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002486091]|not provided [RCV001289093] Chr18:60371659 [GRCh38]
Chr18:58038892 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_005912.3(MC4R):c.418del (p.Leu140fs) deletion MC4R-related condition [RCV003394011]|not provided [RCV001370042] Chr18:60371932 [GRCh38]
Chr18:58039165 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic|uncertain significance
NM_005912.3(MC4R):c.831T>A (p.Cys277Ter) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001783633] Chr18:60371519 [GRCh38]
Chr18:58038752 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.268G>A (p.Asp90Asn) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001733857] Chr18:60372082 [GRCh38]
Chr18:58039315 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.763G>A (p.Val255Ile) single nucleotide variant not provided [RCV001775495] Chr18:60371587 [GRCh38]
Chr18:58038820 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.240C>A (p.Tyr80Ter) single nucleotide variant not provided [RCV001794977] Chr18:60372110 [GRCh38]
Chr18:58039343 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.549G>C (p.Leu183Phe) single nucleotide variant Inherited obesity [RCV001795590] Chr18:60371801 [GRCh38]
Chr18:58039034 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005912.3(MC4R):c.437A>T (p.Asp146Val) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001823846] Chr18:60371913 [GRCh38]
Chr18:58039146 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_005912.3(MC4R):c.847C>T (p.His283Tyr) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001823840] Chr18:60371503 [GRCh38]
Chr18:58038736 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) copy number loss not specified [RCV002052639] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
NC_000018.9:g.(?_55217944)_(58039582_?)del deletion not provided [RCV003120789] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32
pathogenic|uncertain significance
NM_005912.3(MC4R):c.258G>T (p.Leu86Phe) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001823842] Chr18:60372092 [GRCh38]
Chr18:58039325 [GRCh37]
Chr18:18q21.32
likely pathogenic
NM_005912.3(MC4R):c.235A>G (p.Met79Val) single nucleotide variant not provided [RCV001880358] Chr18:60372115 [GRCh38]
Chr18:58039348 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.53G>T (p.Arg18Leu) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002507777]|not provided [RCV002015992] Chr18:60372297 [GRCh38]
Chr18:58039530 [GRCh37]
Chr18:18q21.32
uncertain significance
NC_000018.9:g.(?_55217944)_(58040587_?)dup duplication not provided [RCV001922994] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32
uncertain significance
NM_005912.3(MC4R):c.636T>C (p.Tyr212=) single nucleotide variant not provided [RCV002157725] Chr18:60371714 [GRCh38]
Chr18:58038947 [GRCh37]
Chr18:18q21.32
likely benign
NM_005912.3(MC4R):c.461C>T (p.Ala154Val) single nucleotide variant not provided [RCV003110025] Chr18:60371889 [GRCh38]
Chr18:58039122 [GRCh37]
Chr18:18q21.32
uncertain significance
NC_000018.9:g.(?_55217944)_(58039582_?)dup duplication Combined immunodeficiency due to MALT1 deficiency [RCV003109569]|not provided [RCV003116545] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32
uncertain significance|no classifications from unflagged records
NC_000018.9:g.(?_55217944)_(58040587_?)del deletion Isolated microphthalmia 3 [RCV003116662]|not provided [RCV003116663] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32
pathogenic|no classifications from unflagged records
NM_005912.3(MC4R):c.754G>A (p.Gly252Ser) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002289318] Chr18:60371596 [GRCh38]
Chr18:58038829 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.835T>C (p.Cys279Arg) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002283686] Chr18:60371515 [GRCh38]
Chr18:58038748 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.410T>C (p.Ile137Thr) single nucleotide variant not provided [RCV002293739] Chr18:60371940 [GRCh38]
Chr18:58039173 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.127C>A (p.Gln43Lys) single nucleotide variant Obesity [RCV002464551] Chr18:60372223 [GRCh38]
Chr18:58039456 [GRCh37]
Chr18:18q21.32
likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.32(chr18:57894993-58039760)x1 copy number loss not provided [RCV002472651] Chr18:57894993..58039760 [GRCh37]
Chr18:18q21.32
likely pathogenic
NM_005912.3(MC4R):c.935C>G (p.Thr312Ser) single nucleotide variant not provided [RCV002469815] Chr18:60371415 [GRCh38]
Chr18:58038648 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.171del (p.Ser58fs) deletion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002468457] Chr18:60372179 [GRCh38]
Chr18:58039412 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.895C>T (p.Pro299Ser) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002468537] Chr18:60371455 [GRCh38]
Chr18:58038688 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.221A>T (p.Asn74Ile) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002468544] Chr18:60372129 [GRCh38]
Chr18:58039362 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.631C>G (p.Leu211Val) single nucleotide variant not provided [RCV003013999] Chr18:60371719 [GRCh38]
Chr18:58038952 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.873_875del (p.Ile291del) deletion not provided [RCV002594834] Chr18:60371475..60371477 [GRCh38]
Chr18:58038708..58038710 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.419T>C (p.Leu140Pro) single nucleotide variant not provided [RCV003009925] Chr18:60371931 [GRCh38]
Chr18:58039164 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.422T>G (p.Leu141Arg) single nucleotide variant Inborn genetic diseases [RCV002808703] Chr18:60371928 [GRCh38]
Chr18:58039161 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.227A>G (p.His76Arg) single nucleotide variant MC4R-related condition [RCV003427541]|not provided [RCV002988631] Chr18:60372123 [GRCh38]
Chr18:58039356 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.973C>A (p.Leu325Ile) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV003228689] Chr18:60371377 [GRCh38]
Chr18:58038610 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.487G>A (p.Val163Ile) single nucleotide variant Inborn genetic diseases [RCV003205598] Chr18:60371863 [GRCh38]
Chr18:58039096 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.899T>C (p.Leu300Pro) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV003340729]|MC4R-related condition [RCV003420664] Chr18:60371451 [GRCh38]
Chr18:58038684 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.633_636del (p.Tyr212fs) deletion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV003340727] Chr18:60371714..60371717 [GRCh38]
Chr18:58038947..58038950 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.32(chr18:57782469-58048725)x1 copy number loss not provided [RCV003483340] Chr18:57782469..58048725 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.436G>A (p.Asp146Asn) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV003444480] Chr18:60371914 [GRCh38]
Chr18:58039147 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.11C>T (p.Ser4Phe) single nucleotide variant MC4R-related condition [RCV003402957] Chr18:60372339 [GRCh38]
Chr18:58039572 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.233C>T (p.Pro78Leu) single nucleotide variant not provided [RCV003442373] Chr18:60372117 [GRCh38]
Chr18:58039350 [GRCh37]
Chr18:18q21.32
likely pathogenic
NM_005912.3(MC4R):c.905A>T (p.Tyr302Phe) single nucleotide variant MC4R-related condition [RCV003394372] Chr18:60371445 [GRCh38]
Chr18:58038678 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.297A>G (p.Ser99=) single nucleotide variant not provided [RCV003421663] Chr18:60372053 [GRCh38]
Chr18:58039286 [GRCh37]
Chr18:18q21.32
likely benign
NM_005912.3(MC4R):c.20G>A (p.Arg7His) single nucleotide variant MC4R-related condition [RCV003420742] Chr18:60372330 [GRCh38]
Chr18:58039563 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.89C>T (p.Ser30Phe) single nucleotide variant MC4R-related condition [RCV003417105] Chr18:60372261 [GRCh38]
Chr18:58039494 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.343_344del (p.Gln115fs) microsatellite MC4R-related condition [RCV003417116] Chr18:60372006..60372007 [GRCh38]
Chr18:58039239..58039240 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.305T>C (p.Ile102Thr) single nucleotide variant MC4R-related condition [RCV003402630] Chr18:60372045 [GRCh38]
Chr18:58039278 [GRCh37]
Chr18:18q21.32
likely pathogenic
NM_005912.3(MC4R):c.403G>C (p.Ala135Pro) single nucleotide variant MC4R-related condition [RCV003414122] Chr18:60371947 [GRCh38]
Chr18:58039180 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.467A>C (p.Gln156Pro) single nucleotide variant not provided [RCV003546271] Chr18:60371883 [GRCh38]
Chr18:58039116 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.530G>T (p.Cys177Phe) single nucleotide variant not provided [RCV003714562] Chr18:60371820 [GRCh38]
Chr18:58039053 [GRCh37]
Chr18:18q21.32
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:84
Count of miRNA genes:84
Interacting mature miRNAs:84
Transcripts:ENST00000299766
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
GDB:378002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,039,235 - 58,039,579UniSTSGRCh37
Build 361856,190,215 - 56,190,559RGDNCBI36
Celera1854,757,309 - 54,757,653RGD
Cytogenetic Map18q22UniSTS
HuRef1854,748,557 - 54,748,901UniSTS
MC4R  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,787 - 58,039,106UniSTSGRCh37
GRCh371858,038,732 - 58,039,209UniSTSGRCh37
Build 361856,189,767 - 56,190,086RGDNCBI36
Celera1854,756,861 - 54,757,180RGD
Celera1854,756,806 - 54,757,283UniSTS
HuRef1854,748,054 - 54,748,531UniSTS
HuRef1854,748,109 - 54,748,428UniSTS
PMC310777P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,039,702 - 58,039,924UniSTSGRCh37
Build 361856,190,682 - 56,190,904RGDNCBI36
Celera1854,757,776 - 54,757,998RGD
Cytogenetic Map18q22UniSTS
HuRef1854,749,024 - 54,749,246UniSTS
PMC310777P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,334 - 58,038,542UniSTSGRCh37
Build 361856,189,314 - 56,189,522RGDNCBI36
Celera1854,756,408 - 54,756,616RGD
Cytogenetic Map18q22UniSTS
HuRef1854,747,656 - 54,747,864UniSTS
PMC314306P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,039,346 - 58,039,618UniSTSGRCh37
Build 361856,190,326 - 56,190,598RGDNCBI36
Celera1854,757,420 - 54,757,692RGD
Cytogenetic Map18q22UniSTS
HuRef1854,748,668 - 54,748,940UniSTS
PMC314306P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,039,146 - 58,039,390UniSTSGRCh37
Build 361856,190,126 - 56,190,370RGDNCBI36
Celera1854,757,220 - 54,757,464RGD
Cytogenetic Map18q22UniSTS
HuRef1854,748,468 - 54,748,712UniSTS
PMC314306P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,926 - 58,039,195UniSTSGRCh37
Build 361856,189,906 - 56,190,175RGDNCBI36
Celera1854,757,000 - 54,757,269RGD
Cytogenetic Map18q22UniSTS
HuRef1854,748,248 - 54,748,517UniSTS
PMC314306P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,736 - 58,038,988UniSTSGRCh37
Build 361856,189,716 - 56,189,968RGDNCBI36
Celera1854,756,810 - 54,757,062RGD
Cytogenetic Map18q22UniSTS
HuRef1854,748,058 - 54,748,310UniSTS
PMC314306P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,551 - 58,038,805UniSTSGRCh37
Build 361856,189,531 - 56,189,785RGDNCBI36
Celera1854,756,625 - 54,756,879RGD
Cytogenetic Map18q22UniSTS
HuRef1854,747,873 - 54,748,127UniSTS
PMC314308P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,512 - 58,038,925UniSTSGRCh37
Build 361856,189,492 - 56,189,905RGDNCBI36
Celera1854,756,586 - 54,756,999RGD
Cytogenetic Map18q22UniSTS
HuRef1854,747,834 - 54,748,247UniSTS
MC4R_4126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,525 - 58,039,276UniSTSGRCh37
Build 361856,189,505 - 56,190,256RGDNCBI36
Celera1854,756,599 - 54,757,350RGD
HuRef1854,747,847 - 54,748,598UniSTS
RH70223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,393 - 58,038,586UniSTSGRCh37
Build 361856,189,373 - 56,189,566RGDNCBI36
Celera1854,756,467 - 54,756,660RGD
Cytogenetic Map18q22UniSTS
HuRef1854,747,715 - 54,747,908UniSTS
GeneMap99-GB4 RH Map18400.52UniSTS
NCBI RH Map18753.2UniSTS
UniSTS:481806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,584 - 58,039,582UniSTSGRCh37
Celera1854,756,658 - 54,757,656UniSTS
HuRef1854,747,906 - 54,748,904UniSTS
UniSTS:483261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,564 - 58,039,642UniSTSGRCh37
Celera1854,756,638 - 54,757,716UniSTS
HuRef1854,747,886 - 54,748,964UniSTS
MC4R  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,787 - 58,039,106UniSTSGRCh37
GRCh371858,038,732 - 58,039,209UniSTSGRCh37
Build 361856,189,767 - 56,190,086RGDNCBI36
Celera1854,756,861 - 54,757,180RGD
Celera1854,756,806 - 54,757,283UniSTS
HuRef1854,748,054 - 54,748,531UniSTS
HuRef1854,748,109 - 54,748,428UniSTS


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 11 5 11 28 12 4
Low 298 14 47 17 114 4 24 284 1715 23 103 81 13 1 9 7 1 1
Below cutoff 1232 553 469 177 390 72 948 760 1245 115 705 427 109 188 568

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC091576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU310210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY236539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA362673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF080880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF080881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF080882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF080883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L08603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM674328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM674329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM674330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000299766   ⟹   ENSP00000299766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1860,371,062 - 60,372,775 (-)Ensembl
RefSeq Acc Id: NM_005912   ⟹   NP_005903
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381860,371,062 - 60,372,775 (-)NCBI
GRCh371858,038,564 - 58,040,001 (-)ENTREZGENE
Build 361856,189,544 - 56,190,981 (-)NCBI Archive
HuRef1854,747,886 - 54,749,323 (-)ENTREZGENE
CHM1_11858,034,197 - 58,035,634 (-)NCBI
T2T-CHM13v2.01860,574,034 - 60,575,747 (-)NCBI
Sequence:
RefSeq Acc Id: NP_005903   ⟸   NM_005912
- UniProtKB: Q16317 (UniProtKB/Swiss-Prot),   B2RAC3 (UniProtKB/Swiss-Prot),   Q3MIJ6 (UniProtKB/Swiss-Prot),   P32245 (UniProtKB/Swiss-Prot),   A0N0W6 (UniProtKB/TrEMBL),   A0N0W7 (UniProtKB/TrEMBL),   A0N0W9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000299766   ⟸   ENST00000299766
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P32245-F1-model_v2 AlphaFold P32245 1-332 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6932 AgrOrtholog
COSMIC MC4R COSMIC
Ensembl Genes ENSG00000166603 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000299766 ENTREZGENE
  ENST00000299766.5 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166603 GTEx
HGNC ID HGNC:6932 ENTREZGENE
Human Proteome Map MC4R Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mcort_rcpt_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Melancort_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Melcrt_ACTH_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4160 UniProtKB/Swiss-Prot
NCBI Gene 4160 ENTREZGENE
OMIM 155541 OMIM
PANTHER G-PROTEIN COUPLED RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MELANOCORTIN RECEPTOR 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30676 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MCRFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MELNOCORTINR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MELNOCORTN4R UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0N0W6 ENTREZGENE, UniProtKB/TrEMBL
  A0N0W7 ENTREZGENE, UniProtKB/TrEMBL
  A0N0W8_HUMAN UniProtKB/TrEMBL
  A0N0W9 ENTREZGENE, UniProtKB/TrEMBL
  B2RAC3 ENTREZGENE
  K4MTP3_HUMAN UniProtKB/TrEMBL
  K4MUE5_HUMAN UniProtKB/TrEMBL
  K4MWA3_HUMAN UniProtKB/TrEMBL
  K4MWP7_HUMAN UniProtKB/TrEMBL
  K4N7A9_HUMAN UniProtKB/TrEMBL
  MC4R_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16317 ENTREZGENE
  Q3MIJ6 ENTREZGENE
UniProt Secondary B2RAC3 UniProtKB/Swiss-Prot
  Q16317 UniProtKB/Swiss-Prot
  Q3MIJ6 UniProtKB/Swiss-Prot