LHCGR (luteinizing hormone/choriogonadotropin receptor) - Rat Genome Database

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Gene: LHCGR (luteinizing hormone/choriogonadotropin receptor) Homo sapiens
Analyze
Symbol: LHCGR
Name: luteinizing hormone/choriogonadotropin receptor
RGD ID: 737217
HGNC Page HGNC:6585
Description: Enables luteinizing hormone receptor activity. Involved in cellular response to luteinizing hormone stimulus; cognition; and luteinizing hormone signaling pathway. Located in plasma membrane. Implicated in Leydig cell hypoplasia; Leydig cell tumor; breast cancer; familial male-limited precocious puberty; and gonadal disease. Biomarker of granulosa cell tumor; mucinous cystadenocarcinoma; and serous cystadenocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ41504; HHG; hypergonadotropic hypogonadism; LCGR; LGR2; LH/CG-R; LH/CGR; LHR; LHRHR; LSH-R; lutropin-choriogonadotropic hormone receptor; lutropin/choriogonadotropin receptor; ULG5
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
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38248,686,774 - 48,755,724 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl248,686,774 - 48,755,730 (-)EnsemblGRCh38hg38GRCh38
GRCh37248,913,913 - 48,982,863 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36248,767,417 - 48,836,367 (-)NCBINCBI36Build 36hg18NCBI36
Build 34248,825,619 - 48,894,468NCBI
Celera248,754,221 - 48,823,183 (-)NCBICelera
Cytogenetic Map2p16.3NCBI
HuRef248,647,284 - 48,716,442 (-)NCBIHuRef
CHM1_1248,844,653 - 48,913,614 (-)NCBICHM1_1
T2T-CHM13v2.0248,682,806 - 48,751,772 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(E)-thiamethoxam  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3',5'-cyclic AMP  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-tert-Octylphenol  (ISO)
8-Br-cAMP  (EXP,ISO)
acetamiprid  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
allethrin  (ISO)
alpha-naphthoflavone  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (ISO)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (ISO)
bucladesine  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
Chorionic gonadotropin  (EXP,ISO)
chromium(6+)  (ISO)
colforsin daropate hydrochloride  (ISO)
cyanamide  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
DDE  (ISO)
deoxynivalenol  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
Di-n-hexyl phthalate  (ISO)
dibutyl phthalate  (ISO)
dibutylstannane  (ISO)
Dicyclohexyl phthalate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diheptyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dipentyl phthalate  (ISO)
disulfiram  (ISO)
fenvalerate  (ISO)
flurbiprofen  (ISO)
gamma-hexachlorocyclohexane  (ISO)
genistein  (ISO)
L-ascorbic acid  (ISO)
L-mimosine  (ISO)
leuprolide  (ISO)
LY294002  (ISO)
melittin  (EXP)
methoxychlor  (ISO)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monobenzyl phthalate  (ISO)
monoethyl phthalate  (ISO)
N-ethyl-N-nitrosourea  (ISO)
p-tert-Amylphenol  (ISO)
paraquat  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctanoic acid  (ISO)
perfluoroundecanoic acid  (ISO)
picrotoxin  (ISO)
potassium dichromate  (ISO)
prostaglandin F2alpha  (ISO)
quercetin  (ISO)
resveratrol  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
sulfur dioxide  (ISO)
T-2 toxin  (EXP)
testosterone  (EXP,ISO)
testosterone enanthate  (ISO)
thiamethoxam  (ISO)
titanium dioxide  (ISO)
tofacitinib  (ISO)
tributylstannane  (ISO)
triphenylstannane  (ISO)
tyrphostin AG 1478  (ISO)
uranium atom  (ISO)
vinclozolin  (ISO)
zearalenone  (ISO)
ziram  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of adenylate cyclase activity  (IBA,IEA,ISO,ISS)
adenylate cyclase-activating G protein-coupled receptor signaling pathway  (IBA,IEA,ISS)
adenylate cyclase-modulating G protein-coupled receptor signaling pathway  (IEA,ISO)
arachidonic acid secretion  (IEA,ISO)
cellular response to gonadotropin stimulus  (IEA,ISS)
cellular response to luteinizing hormone stimulus  (IMP)
central nervous system development  (IEA,ISO)
cognition  (IMP)
development of secondary male sexual characteristics  (IEA,ISO)
female gonad development  (IEA,ISO)
G protein-coupled receptor signaling pathway  (IEA,TAS)
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger  (TAS)
hormone-mediated signaling pathway  (IBA,IEA,ISO)
luteinizing hormone signaling pathway  (IBA,IEA,IMP,ISO)
male genitalia development  (TAS)
male gonad development  (IBA,IEA,ISO,TAS)
ovarian follicle development  (IBA,IEA,ISO)
ovulation cycle process  (IBA,IEA,ISO)
phospholipase C-activating G protein-coupled receptor signaling pathway  (IBA,IEA,ISO,ISS)
positive regulation of calcium ion transport into cytosol  (IEA,ISO)
positive regulation of calcium-mediated signaling  (IEA,ISO)
positive regulation of hormone biosynthetic process  (IEA,ISO)
positive regulation of inositol trisphosphate biosynthetic process  (IEA,ISS)
positive regulation of release of sequestered calcium ion into cytosol  (IEA,ISO)
protein targeting to lysosome  (IEA,ISO)
regulation of steroid biosynthetic process  (IEA,ISO)
regulation of steroid hormone biosynthetic process  (IEA,ISO)
response to luteinizing hormone  (IEA)
response to xenobiotic stimulus  (IEA,ISO)
seminiferous tubule development  (IEA,ISO)
signal transduction  (IEA)
spermatogenesis  (IEA,ISO)
uterus development  (IEA,ISO)

Cellular Component
cytoplasm  (IEA,ISO)
endoplasmic reticulum  (IEA,ISO)
endosome  (IEA,ISO,TAS)
extracellular space  (IEA,ISO)
lysosome  (IEA,ISO)
membrane  (IEA)
nucleus  (IEA,ISO)
obsolete intrinsic component of external side of plasma membrane  (ISO)
plasma membrane  (IBA,IDA,IEA,ISO,ISS,TAS)
receptor complex  (IEA,ISO)

References

References - curated
# Reference Title Reference Citation
1. A novel targeted therapy of Leydig and granulosa cell tumors through the luteinizing hormone receptor using a hecate-chorionic gonadotropin beta conjugate in transgenic mice. Bodek G, etal., Neoplasia. 2005 May;7(5):497-508.
2. Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors. Canto P, etal., Am J Med Genet. 2002 Mar 1;108(2):148-52.
3. FSH-regulated gene expression profiles in ovarian tumours and normal ovaries. Chu S, etal., Mol Hum Reprod. 2002 May;8(5):426-33.
4. A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. Evans BA, etal., J Med Genet. 1996 Feb;33(2):143-7.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Lutropin-choriogonadotropin receptor: an unusual member of the G protein-coupled receptor family. McFarland KC, etal., Science. 1989 Aug 4;245(4917):494-9.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. GnRH and LHR gene variants predict adverse outcome in premenopausal breast cancer patients. Piersma D, etal., Breast Cancer Res. 2007;9(4):R51.
9. Polymorphic variations in exon 10 of the luteinizing hormone receptor: functional consequences and associations with breast cancer. Piersma D, etal., Mol Cell Endocrinol. 2007 Sep 30;276(1-2):63-70. Epub 2007 Jul 17.
10. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
11. Luteinizing hormone signaling and breast cancer: polymorphisms and age of onset. Powell BL, etal., J Clin Endocrinol Metab. 2003 Apr;88(4):1653-7.
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Growth repression in diethylstilbestrol/dimethylbenzanthracene-induced rat mammary gland tumor using Hecate-CGbeta conjugate. Zaleska M, etal., Exp Biol Med (Maywood). 2004 Apr;229(4):335-44.
Additional References at PubMed
PMID:1651314   PMID:1922095   PMID:2244890   PMID:2249480   PMID:2254302   PMID:2293030   PMID:2791656   PMID:3470775   PMID:7556872   PMID:7629248   PMID:7692306   PMID:7714085  
PMID:7719343   PMID:7757065   PMID:8281137   PMID:8559204   PMID:8747461   PMID:8829636   PMID:9215288   PMID:9238862   PMID:9435458   PMID:9467560   PMID:9514160   PMID:9528938  
PMID:9558473   PMID:9626144   PMID:9626653   PMID:9661624   PMID:9851790   PMID:9858858   PMID:10215412   PMID:10342833   PMID:10493819   PMID:10580072   PMID:10617611   PMID:11445554  
PMID:11847099   PMID:11867621   PMID:11943741   PMID:11988313   PMID:12036966   PMID:12040016   PMID:12088926   PMID:12091390   PMID:12242044   PMID:12270268   PMID:12444891   PMID:12450321  
PMID:12519858   PMID:12727981   PMID:12770743   PMID:12816543   PMID:12843195   PMID:12850276   PMID:12933660   PMID:12972613   PMID:14507927   PMID:14594799   PMID:14605099   PMID:14764820  
PMID:15016840   PMID:15031322   PMID:15084485   PMID:15169923   PMID:15292356   PMID:15304492   PMID:15304512   PMID:15539429   PMID:15607529   PMID:15788387   PMID:15878956   PMID:15889138  
PMID:15890674   PMID:15908694   PMID:16135786   PMID:16332935   PMID:16344560   PMID:16709601   PMID:16837644   PMID:16943418   PMID:17045393   PMID:17045394   PMID:17052834   PMID:17055147  
PMID:17074323   PMID:17092637   PMID:17293445   PMID:17458905   PMID:17548147   PMID:17556863   PMID:17609213   PMID:18162522   PMID:18217981   PMID:18240029   PMID:18300940   PMID:18313839  
PMID:18372343   PMID:18411916   PMID:18433292   PMID:18439297   PMID:18508780   PMID:18577758   PMID:18596044   PMID:18641392   PMID:18647647   PMID:18758818   PMID:18767927   PMID:18772599  
PMID:18848524   PMID:18971217   PMID:19010824   PMID:19064572   PMID:19086053   PMID:19129711   PMID:19147490   PMID:19246536   PMID:19356624   PMID:19394610   PMID:19403562   PMID:19453261  
PMID:19492585   PMID:19508998   PMID:19551906   PMID:19574343   PMID:19598235   PMID:19616090   PMID:19636197   PMID:20173016   PMID:20374734   PMID:20424473   PMID:20444430   PMID:20570710  
PMID:20634197   PMID:20646984   PMID:20716560   PMID:20734064   PMID:20835841   PMID:21147848   PMID:21151128   PMID:21193408   PMID:21330483   PMID:21490077   PMID:21575145   PMID:21622536  
PMID:21683950   PMID:21690095   PMID:21711548   PMID:21720050   PMID:21873635   PMID:21989932   PMID:22002533   PMID:22207559   PMID:22245602   PMID:22260850   PMID:22309849   PMID:22355044  
PMID:22356187   PMID:22369774   PMID:22546001   PMID:22659248   PMID:22829776   PMID:22882535   PMID:22885925   PMID:22902918   PMID:23044874   PMID:23071612   PMID:23118426   PMID:23225038  
PMID:23227193   PMID:23285091   PMID:23433069   PMID:23537643   PMID:23779096   PMID:23825122   PMID:23883350   PMID:23884663   PMID:23951246   PMID:23990106   PMID:24014605   PMID:24283620  
PMID:24365330   PMID:24438591   PMID:24527662   PMID:24554412   PMID:24592983   PMID:24747085   PMID:24874553   PMID:25010708   PMID:25079470   PMID:25393079   PMID:25565299   PMID:25592315  
PMID:25649397   PMID:25670721   PMID:25676660   PMID:25795638   PMID:25916694   PMID:25935136   PMID:26112185   PMID:26662070   PMID:26663062   PMID:26679164   PMID:26757946   PMID:26769719  
PMID:26831561   PMID:27016457   PMID:27061682   PMID:27196470   PMID:27502035   PMID:27533885   PMID:28188844   PMID:28367994   PMID:28505106   PMID:28684292   PMID:28775256   PMID:29408742  
PMID:29506309   PMID:29544643   PMID:29727258   PMID:29974367   PMID:30070345   PMID:30182769   PMID:30287399   PMID:30496042   PMID:30954507   PMID:30958034   PMID:31131092   PMID:31187330  
PMID:31276164   PMID:31729966   PMID:32416252   PMID:32640302   PMID:32666356   PMID:32860205   PMID:33374698   PMID:33961781   PMID:34046009   PMID:34050448   PMID:34338568   PMID:34391684  
PMID:35366614   PMID:35597810   PMID:35670320   PMID:35842313  


Genomics

Comparative Map Data
LHCGR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38248,686,774 - 48,755,724 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl248,686,774 - 48,755,730 (-)EnsemblGRCh38hg38GRCh38
GRCh37248,913,913 - 48,982,863 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36248,767,417 - 48,836,367 (-)NCBINCBI36Build 36hg18NCBI36
Build 34248,825,619 - 48,894,468NCBI
Celera248,754,221 - 48,823,183 (-)NCBICelera
Cytogenetic Map2p16.3NCBI
HuRef248,647,284 - 48,716,442 (-)NCBIHuRef
CHM1_1248,844,653 - 48,913,614 (-)NCBICHM1_1
T2T-CHM13v2.0248,682,806 - 48,751,772 (-)NCBIT2T-CHM13v2.0
Lhcgr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391789,023,812 - 89,099,487 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1789,023,909 - 89,099,418 (-)EnsemblGRCm39 Ensembl
GRCm381788,716,384 - 88,792,059 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1788,716,481 - 88,791,990 (-)EnsemblGRCm38mm10GRCm38
MGSCv371789,140,889 - 89,191,316 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361788,649,875 - 88,700,302 (-)NCBIMGSCv36mm8
Celera1793,149,952 - 93,199,996 (-)NCBICelera
Cytogenetic Map17E4NCBI
cM Map1758.35NCBI
Lhcgr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.265,661,871 - 5,728,109 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl65,661,871 - 5,724,521 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx65,950,334 - 6,013,310 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.066,259,709 - 6,322,689 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.065,786,872 - 5,849,858 (+)NCBIRnor_WKY
Rnor_6.0612,493,182 - 12,554,482 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl612,493,943 - 12,554,439 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0622,455,216 - 22,516,430 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4612,613,622 - 12,651,587 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1612,613,621 - 12,651,587 (-)NCBI
Celera65,442,191 - 5,504,330 (+)NCBICelera
Cytogenetic Map6q12NCBI
Lhcgr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544115,207,252 - 15,242,914 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544115,205,883 - 15,263,617 (-)NCBIChiLan1.0ChiLan1.0
LHCGR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A49,728,994 - 49,798,780 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A49,729,002 - 49,798,780 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A48,808,822 - 48,879,021 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
LHCGR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11050,540,706 - 50,594,336 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1050,541,960 - 50,598,036 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1050,394,259 - 50,456,607 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01051,416,899 - 51,479,209 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1051,417,733 - 51,474,628 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11051,119,798 - 51,182,164 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01051,404,008 - 51,466,313 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01051,595,139 - 51,657,483 (-)NCBIUU_Cfam_GSD_1.0
Lhcgr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629232,499,857 - 32,557,352 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365083,928,466 - 3,983,890 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365083,928,467 - 3,983,481 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LHCGR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl391,964,415 - 92,021,398 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1391,964,415 - 92,023,821 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2397,929,099 - 97,949,675 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap3q22-q23NCBI
LHCGR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11458,413,334 - 58,479,124 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1458,413,993 - 58,477,987 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604553,365,608 - 53,428,814 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lhcgr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473829,903,571 - 29,966,915 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473829,902,364 - 29,967,384 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LHCGR
162 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2227
Count of miRNA genes:958
Interacting mature miRNAs:1128
Transcripts:ENST00000294954, ENST00000344775, ENST00000401907, ENST00000403273, ENST00000405626, ENST00000420913, ENST00000428232, ENST00000477576, ENST00000602369
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.

Markers in Region
GDB:554779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37248,914,994 - 48,915,205UniSTSGRCh37
Build 36248,768,498 - 48,768,709RGDNCBI36
Celera248,755,302 - 48,755,513RGD
Cytogenetic Map2p21UniSTS
HuRef248,648,365 - 48,648,576UniSTS
GDB:555464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37248,914,908 - 48,915,102UniSTSGRCh37
Build 36248,768,412 - 48,768,606RGDNCBI36
Celera248,755,216 - 48,755,410RGD
Cytogenetic Map2p21UniSTS
HuRef248,648,279 - 48,648,473UniSTS
GDB:581104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37248,915,153 - 48,915,616UniSTSGRCh37
Build 36248,768,657 - 48,769,120RGDNCBI36
Celera248,755,461 - 48,755,924RGD
Cytogenetic Map2p21UniSTS
HuRef248,648,524 - 48,648,987UniSTS
SHGC-142551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37248,964,617 - 48,964,940UniSTSGRCh37
Build 36248,818,121 - 48,818,444RGDNCBI36
Celera248,804,914 - 48,805,237RGD
Cytogenetic Map2p21UniSTS
HuRef248,697,975 - 48,698,298UniSTS
TNG Radiation Hybrid Map21161.0UniSTS
D2S215E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37248,942,778 - 48,942,883UniSTSGRCh37
Build 36248,796,282 - 48,796,387RGDNCBI36
Celera248,783,079 - 48,783,184RGD
HuRef248,676,142 - 48,676,247UniSTS
RH17720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37248,914,126 - 48,914,324UniSTSGRCh37
Build 36248,767,630 - 48,767,828RGDNCBI36
Celera248,754,434 - 48,754,632RGD
Cytogenetic Map2p21UniSTS
HuRef248,647,497 - 48,647,695UniSTS
GeneMap99-GB4 RH Map2148.85UniSTS
073WF3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37248,980,904 - 48,981,019UniSTSGRCh37
Build 36248,834,408 - 48,834,523RGDNCBI36
Celera248,821,201 - 48,821,316RGD
Cytogenetic Map2p21UniSTS
HuRef248,714,454 - 48,714,575UniSTS
Whitehead-YAC Contig Map2 UniSTS
LHCGR  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37248,914,915 - 48,915,842UniSTSGRCh37
GRCh37248,915,156 - 48,915,648UniSTSGRCh37
Celera248,755,223 - 48,756,150UniSTS
Celera248,755,464 - 48,755,956UniSTS
HuRef248,648,527 - 48,649,019UniSTS
HuRef248,648,286 - 48,649,213UniSTS
D2S2593  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p21UniSTS
Whitehead-YAC Contig Map2 UniSTS
LHCGR  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37248,914,915 - 48,915,842UniSTSGRCh37
GRCh37248,915,156 - 48,915,648UniSTSGRCh37
Celera248,755,223 - 48,756,150UniSTS
Celera248,755,464 - 48,755,956UniSTS
HuRef248,648,527 - 48,649,019UniSTS
HuRef248,648,286 - 48,649,213UniSTS


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
High
Medium 146 1 128 147 128 2 15 2 127
Low 734 70 388 71 1144 651 603 28 461 257 721 634
Below cutoff 1213 1937 909 215 692 81 2501 993 2591 172 696 1017 137 1 476 1584 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_033050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC073082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF024642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF082076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX101581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA376746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M73746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT041244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT041245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT041246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT041247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT041248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S57793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000294954   ⟹   ENSP00000294954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl248,686,774 - 48,755,724 (-)Ensembl
RefSeq Acc Id: ENST00000401907   ⟹   ENSP00000385406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl248,687,669 - 48,755,730 (-)Ensembl
RefSeq Acc Id: ENST00000403273   ⟹   ENSP00000385847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl248,687,669 - 48,755,730 (-)Ensembl
RefSeq Acc Id: ENST00000405626   ⟹   ENSP00000386033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl248,687,643 - 48,755,671 (-)Ensembl
RefSeq Acc Id: ENST00000428232   ⟹   ENSP00000403748
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl248,720,040 - 48,755,569 (-)Ensembl
RefSeq Acc Id: ENST00000477576
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl248,708,770 - 48,723,514 (-)Ensembl
RefSeq Acc Id: NM_000233   ⟹   NP_000224
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,686,774 - 48,755,724 (-)NCBI
GRCh37248,913,913 - 48,982,880 (-)ENTREZGENE
Build 36248,767,417 - 48,836,367 (-)NCBI Archive
HuRef248,647,284 - 48,716,442 (-)ENTREZGENE
CHM1_1248,844,653 - 48,913,614 (-)NCBI
T2T-CHM13v2.0248,682,806 - 48,751,772 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264309   ⟹   XP_005264366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,686,774 - 48,694,971 (-)NCBI
GRCh37248,913,913 - 48,982,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712015   ⟹   XP_006712078
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,686,774 - 48,697,935 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532834   ⟹   XP_011531136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,686,774 - 48,697,935 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004090   ⟹   XP_016859579
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,686,774 - 48,713,969 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047444291   ⟹   XP_047300247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,686,774 - 48,755,724 (-)NCBI
RefSeq Acc Id: XM_047444292   ⟹   XP_047300248
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,686,774 - 48,755,724 (-)NCBI
RefSeq Acc Id: XM_047444293   ⟹   XP_047300249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,686,774 - 48,755,724 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_000224   ⟸   NM_000233
- Peptide Label: precursor
- UniProtKB: Q9UEW9 (UniProtKB/Swiss-Prot),   P22888 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005264366   ⟸   XM_005264309
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_006712078   ⟸   XM_006712015
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011531136   ⟸   XM_011532834
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016859579   ⟸   XM_017004090
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000294954   ⟸   ENST00000294954
RefSeq Acc Id: ENSP00000403748   ⟸   ENST00000428232
RefSeq Acc Id: ENSP00000385406   ⟸   ENST00000401907
RefSeq Acc Id: ENSP00000385847   ⟸   ENST00000403273
RefSeq Acc Id: ENSP00000386033   ⟸   ENST00000405626
RefSeq Acc Id: XP_047300249   ⟸   XM_047444293
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047300247   ⟸   XM_047444291
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047300248   ⟸   XM_047444292
- Peptide Label: isoform X2
Protein Domains
G_PROTEIN_RECEP_F1_2   LRRNT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22888-F1-model_v2 AlphaFold P22888 1-699 view protein structure

Promoters
RGD ID:6860296
Promoter ID:EPDNEW_H3313
Type:initiation region
Name:LHCGR_1
Description:luteinizing hormone/choriogonadotropin receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38248,755,637 - 48,755,697EPDNEW
RGD ID:6797733
Promoter ID:HG_KWN:32601
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000344775,   ENST00000401907,   ENST00000403273,   ENST00000405626,   NM_000233,   OTTHUMT00000323838,   OTTHUMT00000323843,   UC002RWV.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36248,836,051 - 48,836,551 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000233.4(LHCGR):c.1057T>C (p.Cys353Arg) single nucleotide variant not provided [RCV000519869] Chr2:48688740 [GRCh38]
Chr2:48915879 [GRCh37]
Chr2:2p16.3
uncertain significance
LHCGR, ASP582GLY variation Gonadotropin-independent familial sexual precocity [RCV000015463] Chr2:2p21 pathogenic
NM_000233.4(LHCGR):c.1824_1829del (p.Val609_Leu610del) deletion Leydig cell agenesis [RCV000015479]|Luteinizing hormone resistance, female [RCV000015480] Chr2:48687968..48687973 [GRCh38]
Chr2:48915107..48915112 [GRCh37]
Chr2:2p16.3
pathogenic
LHCGR, LEU-GLN INS, CODON 19-20 insertion Luteinizing hormone/choriogonadotropin receptor, lq variant [RCV000015482] Chr2:2p21 pathogenic
NM_000233.4(LHCGR):c.866+1515_948-2168del deletion Leydig cell hypoplasia, type II [RCV000015485] Chr2:48691017..48697100 [GRCh38]
Chr2:48918156..48924239 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln) microsatellite Leydig cell agenesis [RCV000015486] Chr2:48755616..48755617 [GRCh38]
Chr2:48982755..48982756 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.709del (p.Leu237fs) deletion Leydig cell agenesis [RCV000656703] Chr2:48698772 [GRCh38]
Chr2:48925911 [GRCh37]
Chr2:2p16.3
likely pathogenic
NM_000233.4(LHCGR):c.1733A>C (p.Asp578Ala) single nucleotide variant not specified [RCV000518619] Chr2:48688064 [GRCh38]
Chr2:48915203 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000015461]|Leydig cell agenesis [RCV000763499]|Precocious puberty in males [RCV000583503]|not provided [RCV000517056] Chr2:48688064 [GRCh38]
Chr2:48915203 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1713G>A (p.Met571Ile) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000015462] Chr2:48688084 [GRCh38]
Chr2:48915223 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1627T>C (p.Cys543Arg) single nucleotide variant Leydig cell agenesis [RCV000015464] Chr2:48688170 [GRCh38]
Chr2:48915309 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1777G>C (p.Ala593Pro) single nucleotide variant Leydig cell agenesis [RCV000015465]|Luteinizing hormone resistance, female [RCV000015466] Chr2:48688020 [GRCh38]
Chr2:48915159 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1730C>T (p.Thr577Ile) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000015467] Chr2:48688067 [GRCh38]
Chr2:48915206 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1715C>T (p.Ala572Val) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000015468] Chr2:48688082 [GRCh38]
Chr2:48915221 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter) single nucleotide variant Leydig cell agenesis [RCV000015469] Chr2:48688162 [GRCh38]
Chr2:48915301 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) single nucleotide variant Leydig cell agenesis [RCV000015470]|Luteinizing hormone resistance, female [RCV000015471]|See cases [RCV002251907]|not provided [RCV001781270] Chr2:48688137 [GRCh38]
Chr2:48915276 [GRCh37]
Chr2:2p16.3
pathogenic|likely pathogenic
NM_000233.4(LHCGR):c.1847C>A (p.Ser616Tyr) single nucleotide variant Leydig hypoplasia, type I [RCV000015472] Chr2:48687950 [GRCh38]
Chr2:48915089 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000015473]|Precocious puberty in males [RCV000581515] Chr2:48688604 [GRCh38]
Chr2:48915743 [GRCh37]
Chr2:2p16.3
pathogenic|likely pathogenic
NM_000233.4(LHCGR):c.391T>C (p.Cys131Arg) single nucleotide variant Leydig cell hypoplasia, type II [RCV000015475] Chr2:48723689 [GRCh38]
Chr2:48950828 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1118C>T (p.Ala373Val) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000015476] Chr2:48688679 [GRCh38]
Chr2:48915818 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1060G>A (p.Glu354Lys) single nucleotide variant Leydig cell agenesis [RCV000015477]|Luteinizing hormone resistance, female [RCV000015478] Chr2:48688737 [GRCh38]
Chr2:48915876 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1874T>A (p.Ile625Lys) single nucleotide variant Leydig cell hypoplasia, type II [RCV000015481] Chr2:48687923 [GRCh38]
Chr2:48915062 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000015483]|not provided [RCV001851873] Chr2:48688173 [GRCh38]
Chr2:48915312 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1732G>C (p.Asp578His) single nucleotide variant Leydig cell adenoma, somatic, with male-limited precocious puberty [RCV000015484] Chr2:48688065 [GRCh38]
Chr2:48915204 [GRCh37]
Chr2:2p16.3
pathogenic|other
NM_000233.4(LHCGR):c.1103T>C (p.Leu368Pro) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000015487] Chr2:48688694 [GRCh38]
Chr2:48915833 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1703C>T (p.Ala568Val) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000015488] Chr2:48688094 [GRCh38]
Chr2:48915233 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1370T>G (p.Leu457Arg) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000015489] Chr2:48688427 [GRCh38]
Chr2:48915566 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1027T>A (p.Cys343Ser) single nucleotide variant Leydig cell agenesis [RCV000015490] Chr2:48688770 [GRCh38]
Chr2:48915909 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1505T>C (p.Leu502Pro) single nucleotide variant Leydig cell agenesis [RCV000015491] Chr2:48688292 [GRCh38]
Chr2:48915431 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.430G>T (p.Val144Phe) single nucleotide variant Leydig cell agenesis [RCV000015492] Chr2:48723650 [GRCh38]
Chr2:48950789 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000015493]|not provided [RCV000712217] Chr2:48688106 [GRCh38]
Chr2:48915245 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1732G>T (p.Asp578Tyr) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000030141] Chr2:48688065 [GRCh38]
Chr2:48915204 [GRCh37]
Chr2:2p16.3
likely pathogenic
NM_000233.4(LHCGR):c.458+3A>G single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000030142]|Hypergonadotropic hypogonadism [RCV000283986]|Leydig cell agenesis [RCV000324216]|not provided [RCV000522874] Chr2:48723619 [GRCh38]
Chr2:48950758 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000233.4(LHCGR):c.605+52del deletion Gonadotropin-independent familial sexual precocity [RCV000030143]|not provided [RCV001642242] Chr2:48713934 [GRCh38]
Chr2:48941073 [GRCh37]
Chr2:2p16.3
benign|uncertain significance
NM_000233.3(LHCGR):c.948-828T>G single nucleotide variant Lung cancer [RCV000092125] Chr2:48689677 [GRCh38]
Chr2:48916816 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
NM_000233.4(LHCGR):c.672G>A (p.Pro224=) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001140145]|Leydig cell agenesis [RCV001140144] Chr2:48708956 [GRCh38]
Chr2:48936095 [GRCh37]
Chr2:48789599 [NCBI36]
Chr2:2p16.3
benign|uncertain significance|not provided
NM_000233.3(LHCGR):c.235G>A (p.Glu79Lys) single nucleotide variant Malignant melanoma [RCV000065621] Chr2:48729226 [GRCh38]
Chr2:48956365 [GRCh37]
Chr2:48809869 [NCBI36]
Chr2:2p16.3
not provided
NM_000233.3(LHCGR):c.1400C>T (p.Thr467Ile) single nucleotide variant Malignant melanoma [RCV000060581] Chr2:48688397 [GRCh38]
Chr2:48915536 [GRCh37]
Chr2:48769040 [NCBI36]
Chr2:2p16.3
not provided
NM_000233.4(LHCGR):c.872A>G (p.Asn291Ser) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000393912]|Hypergonadotropic hypogonadism [RCV000305995]|Leydig cell agenesis [RCV000342135]|not provided [RCV002055659]|not specified [RCV000126622] Chr2:48694299 [GRCh38]
Chr2:48921438 [GRCh37]
Chr2:2p16.3
benign
GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1 copy number loss See cases [RCV000133939] Chr2:46806218..50565538 [GRCh38]
Chr2:47033357..50792676 [GRCh37]
Chr2:46886861..50646180 [NCBI36]
Chr2:2p21-16.3
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p16.3(chr2:48634764-48761441)x0 copy number loss See cases [RCV000140457] Chr2:48634764..48761441 [GRCh38]
Chr2:48861903..48988580 [GRCh37]
Chr2:48715407..48842084 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:48543380-49241978)x3 copy number gain See cases [RCV000142001] Chr2:48543380..49241978 [GRCh38]
Chr2:48770519..49469117 [GRCh37]
Chr2:48624023..49322621 [NCBI36]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p16.3(chr2:48581695-49195508)x3 copy number gain See cases [RCV000142537] Chr2:48581695..49195508 [GRCh38]
Chr2:48808834..49422647 [GRCh37]
Chr2:48662338..49276151 [NCBI36]
Chr2:2p16.3
likely benign|uncertain significance
NM_000233.4(LHCGR):c.*148T>C single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000265115]|Hypergonadotropic hypogonadism [RCV000320826]|Leydig cell agenesis [RCV000378894]|not provided [RCV001643033] Chr2:48687549 [GRCh38]
Chr2:48914688 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000318790]|Hypergonadotropic hypogonadism [RCV000263657]|Leydig cell agenesis [RCV000373581]|not provided [RCV000731559] Chr2:48688437 [GRCh38]
Chr2:48915576 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000233.4(LHCGR):c.1869T>G (p.Tyr623Ter) single nucleotide variant Leydig cell agenesis [RCV000581164] Chr2:48687928 [GRCh38]
Chr2:48915067 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter) single nucleotide variant Leydig cell agenesis [RCV000582170]|not provided [RCV002225682] Chr2:48725689 [GRCh38]
Chr2:48952828 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.81G>A (p.Glu27=) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000323373]|Hypergonadotropic hypogonadism [RCV000268098]|Leydig cell agenesis [RCV000362727] Chr2:48755591 [GRCh38]
Chr2:48982730 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_000233.4(LHCGR):c.*221G>C single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000363622]|Hypergonadotropic hypogonadism [RCV000324261]|Leydig cell agenesis [RCV000269092]|not provided [RCV001598656] Chr2:48687476 [GRCh38]
Chr2:48914615 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.*383C>A single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000286128]|Hypergonadotropic hypogonadism [RCV000380512]|Leydig cell agenesis [RCV000325877] Chr2:48687314 [GRCh38]
Chr2:48914453 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.54G>A (p.Gln18=) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000335238]|Hypergonadotropic hypogonadism [RCV000280149]|Leydig cell agenesis [RCV000374643] Chr2:48755618 [GRCh38]
Chr2:48982757 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.*131C>T single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000375414]|Hypergonadotropic hypogonadism [RCV000335919]|Leydig cell agenesis [RCV000280854]|not provided [RCV001590982] Chr2:48687566 [GRCh38]
Chr2:48914705 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_000233.4(LHCGR):c.430G>A (p.Val144Ile) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000280904]|Hypergonadotropic hypogonadism [RCV000338998]|Leydig cell agenesis [RCV000401542]|not provided [RCV001753800] Chr2:48723650 [GRCh38]
Chr2:48950789 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_000233.4(LHCGR):c.*360G>A single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000282373]|Hypergonadotropic hypogonadism [RCV000400075]|Leydig cell agenesis [RCV000341033]|not provided [RCV001691961] Chr2:48687337 [GRCh38]
Chr2:48914476 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.610C>T (p.Leu204=) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000368668]|Hypergonadotropic hypogonadism [RCV000332756]|Leydig cell agenesis [RCV000274137]|not provided [RCV000903367] Chr2:48709018 [GRCh38]
Chr2:48936157 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_000233.4(LHCGR):c.*535G>A single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000316704]|Hypergonadotropic hypogonadism [RCV000355177]|Leydig cell agenesis [RCV000274479] Chr2:48687162 [GRCh38]
Chr2:48914301 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000326723]|Hypergonadotropic hypogonadism [RCV000365999]|Leydig cell agenesis [RCV000271704]|not provided [RCV000902643]|not specified [RCV001821016] Chr2:48725722 [GRCh38]
Chr2:48952861 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000233.4(LHCGR):c.1065T>C (p.Asp355=) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000334166]|Hypergonadotropic hypogonadism [RCV000260201]|Leydig cell agenesis [RCV000388700]|not provided [RCV001651119]|not specified [RCV000249750] Chr2:48688732 [GRCh38]
Chr2:48915871 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.935A>G (p.Asn312Ser) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000345770]|Hypergonadotropic hypogonadism [RCV000290924]|Leydig cell agenesis [RCV000399694]|not provided [RCV001594888]|not specified [RCV000247916] Chr2:48694236 [GRCh38]
Chr2:48921375 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.866+8G>A single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000302553]|Hypergonadotropic hypogonadism [RCV000357135]|Leydig cell agenesis [RCV000262221]|not provided [RCV001537570]|not specified [RCV000243145] Chr2:48698607 [GRCh38]
Chr2:48925746 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000303447]|Hypergonadotropic hypogonadism [RCV000267125]|Leydig cell agenesis [RCV000358276]|not provided [RCV001569958] Chr2:48688128 [GRCh38]
Chr2:48915267 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_000233.4(LHCGR):c.*577T>A single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000277958]|Hypergonadotropic hypogonadism [RCV000313054]|Leydig cell agenesis [RCV000370166] Chr2:48687120 [GRCh38]
Chr2:48914259 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_000233.4(LHCGR):c.384-15T>C single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000400664]|Hypergonadotropic hypogonadism [RCV000336007]|Leydig cell agenesis [RCV000314955] Chr2:48723711 [GRCh38]
Chr2:48950850 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.*528T>C single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000384060]|Hypergonadotropic hypogonadism [RCV000289681]|Leydig cell agenesis [RCV000329529]|not provided [RCV001712067] Chr2:48687169 [GRCh38]
Chr2:48914308 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.606-5C>T single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000327580]|Hypergonadotropic hypogonadism [RCV000287821]|Leydig cell agenesis [RCV000382152]|not provided [RCV000888644] Chr2:48709027 [GRCh38]
Chr2:48936166 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_000233.4(LHCGR):c.1875A>T (p.Ile625=) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000306832]|Hypergonadotropic hypogonadism [RCV000391059]|Leydig cell agenesis [RCV000361800]|not provided [RCV000910811] Chr2:48687922 [GRCh38]
Chr2:48915061 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_000233.4(LHCGR):c.1010T>C (p.Leu337Ser) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000385273]|Hypergonadotropic hypogonadism [RCV000348259]|Leydig cell agenesis [RCV000293373]|not provided [RCV000967950] Chr2:48688787 [GRCh38]
Chr2:48915926 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001198593.2(STON1-GTF2A1L):c.3442-20551C>A single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000401707]|Hypergonadotropic hypogonadism [RCV000348327]|Leydig cell agenesis [RCV000295770]|not provided [RCV001711952] Chr2:48755729 [GRCh38]
Chr2:48982868 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.2002A>C (p.Thr668Pro) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000401796]|Hypergonadotropic hypogonadism [RCV000346658]|Leydig cell agenesis [RCV000310469] Chr2:48687795 [GRCh38]
Chr2:48914934 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_000233.4(LHCGR):c.*7C>T single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000350978]|Hypergonadotropic hypogonadism [RCV000295974]|Leydig cell agenesis [RCV000371791] Chr2:48687690 [GRCh38]
Chr2:48914829 [GRCh37]
Chr2:2p16.3
benign|likely benign|uncertain significance
NM_000233.4(LHCGR):c.378A>C (p.Lys126Asn) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000369440]|Hypergonadotropic hypogonadism [RCV000311287]|Leydig cell agenesis [RCV000407784] Chr2:48725681 [GRCh38]
Chr2:48952820 [GRCh37]
Chr2:2p16.3
likely benign
NM_000233.4(LHCGR):c.*300T>A single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000408432]|Hypergonadotropic hypogonadism [RCV000337425]|Leydig cell agenesis [RCV000297700] Chr2:48687397 [GRCh38]
Chr2:48914536 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.*281del deletion Gonadotropin-independent familial sexual precocity [RCV000312867]|Hypergonadotropic hypogonadism [RCV000408420]|Leydig cell agenesis [RCV000371037] Chr2:48687416 [GRCh38]
Chr2:48914555 [GRCh37]
Chr2:2p16.3
likely benign
NM_000233.4(LHCGR):c.*273T>C single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000272489]|Hypergonadotropic hypogonadism [RCV000327667]|Leydig cell agenesis [RCV000367136] Chr2:48687424 [GRCh38]
Chr2:48914563 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.811G>A (p.Ala271Thr) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000353480]|Hypergonadotropic hypogonadism [RCV000298657]|Leydig cell agenesis [RCV000277711] Chr2:48698670 [GRCh38]
Chr2:48925809 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup) duplication Gonadotropin-independent familial sexual precocity [RCV000378063]|Hypergonadotropic hypogonadism [RCV000283585]|Leydig cell agenesis [RCV000319880]|Luteinizing hormone/choriogonadotropin receptor, lq variant [RCV002270219]|not provided [RCV002057704]|not specified [RCV000303287] Chr2:48755616..48755617 [GRCh38]
Chr2:48982755..48982756 [GRCh37]
Chr2:2p16.3
pathogenic|benign
NM_000233.4(LHCGR):c.*724T>C single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV000366577]|Hypergonadotropic hypogonadism [RCV000392953]|Leydig cell agenesis [RCV000309530] Chr2:48686973 [GRCh38]
Chr2:48914112 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.580T>G (p.Phe194Val) single nucleotide variant Pseudohermaphroditism [RCV000583426] Chr2:48714011 [GRCh38]
Chr2:48941150 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.132C>T (p.Cys44=) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001138420]|Leydig cell agenesis [RCV001138421] Chr2:48755540 [GRCh38]
Chr2:48982679 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p16.3(chr2:48500265-49197158)x1 copy number loss See cases [RCV000447959] Chr2:48500265..49197158 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.383+2T>C single nucleotide variant not provided [RCV000480873] Chr2:48725674 [GRCh38]
Chr2:48952813 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1471T>C (p.Trp491Arg) single nucleotide variant not provided [RCV000484363] Chr2:48688326 [GRCh38]
Chr2:48915465 [GRCh37]
Chr2:2p16.3
likely pathogenic
NM_000233.4(LHCGR):c.517A>T (p.Asn173Tyr) single nucleotide variant not provided [RCV000481447] Chr2:48723475 [GRCh38]
Chr2:48950614 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000233.4(LHCGR):c.2091A>T (p.Thr697=) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001137783]|Leydig cell agenesis [RCV001137784]|not specified [RCV000499711] Chr2:48687706 [GRCh38]
Chr2:48914845 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000233.4(LHCGR):c.1797C>A (p.Ile599=) single nucleotide variant not provided [RCV000597109] Chr2:48688000 [GRCh38]
Chr2:48915139 [GRCh37]
Chr2:2p16.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1 copy number loss See cases [RCV000512533] Chr2:47361260..54934153 [GRCh37]
Chr2:2p21-16.2
pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:48732944-49827891)x3 copy number gain not provided [RCV000752947] Chr2:48732944..49827891 [GRCh37]
Chr2:2p16.3
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p16.3(chr2:48935392-49129890)x1 copy number loss not provided [RCV000740417] Chr2:48935392..49129890 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.162-189T>C single nucleotide variant not provided [RCV001669336] Chr2:48731487 [GRCh38]
Chr2:48958626 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.536+1888T>G single nucleotide variant not provided [RCV001691156] Chr2:48721568 [GRCh38]
Chr2:48948707 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.264G>A (p.Arg88=) single nucleotide variant not provided [RCV000918241] Chr2:48729197 [GRCh38]
Chr2:48956336 [GRCh37]
Chr2:2p16.3
likely benign
NM_000233.4(LHCGR):c.161+292C>T single nucleotide variant not provided [RCV001665878] Chr2:48755219 [GRCh38]
Chr2:48982358 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.605+46T>C single nucleotide variant not provided [RCV001725703] Chr2:48713940 [GRCh38]
Chr2:48941079 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.1953T>C (p.Tyr651=) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001140025]|Leydig cell agenesis [RCV001140026]|not provided [RCV000884474] Chr2:48687844 [GRCh38]
Chr2:48914983 [GRCh37]
Chr2:2p16.3
benign|uncertain significance
NM_000233.4(LHCGR):c.605+9T>G single nucleotide variant not provided [RCV000926954] Chr2:48713977 [GRCh38]
Chr2:48941116 [GRCh37]
Chr2:2p16.3
likely benign
NM_000233.4(LHCGR):c.1971A>G (p.Ser657=) single nucleotide variant not provided [RCV000922132] Chr2:48687826 [GRCh38]
Chr2:48914965 [GRCh37]
Chr2:2p16.3
likely benign
NM_000233.4(LHCGR):c.442G>T (p.Glu148Ter) single nucleotide variant Leydig cell agenesis [RCV000768371] Chr2:48723638 [GRCh38]
Chr2:48950777 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.680+9A>G single nucleotide variant not provided [RCV000895755]|not specified [RCV001818707] Chr2:48708939 [GRCh38]
Chr2:48936078 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_000233.4(LHCGR):c.1169A>G (p.Lys390Arg) single nucleotide variant not provided [RCV000882817] Chr2:48688628 [GRCh38]
Chr2:48915767 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity
NM_000233.4(LHCGR):c.561A>G (p.Glu187=) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001140897]|Leydig cell agenesis [RCV001140896]|not provided [RCV000881798] Chr2:48714030 [GRCh38]
Chr2:48941169 [GRCh37]
Chr2:2p16.3
benign|likely benign|uncertain significance
GRCh37/hg19 2p16.3(chr2:48874796-48958998)x1 copy number loss not provided [RCV001005256] Chr2:48874796..48958998 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.*553A>T single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001137664]|Leydig cell agenesis [RCV001137665] Chr2:48687144 [GRCh38]
Chr2:48914283 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.161+9A>G single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001138004]|Leydig cell agenesis [RCV001138005]|not specified [RCV001819843] Chr2:48755502 [GRCh38]
Chr2:48982641 [GRCh37]
Chr2:2p16.3
benign|uncertain significance
NM_000233.4(LHCGR):c.1723A>C (p.Ile575Leu) single nucleotide variant not provided [RCV000992274] Chr2:48688074 [GRCh38]
Chr2:48915213 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.-32C>G single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001138423]|Leydig cell agenesis [RCV001138422] Chr2:48755703 [GRCh38]
Chr2:48982842 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.2095T>A (p.Cys699Ser) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001137782]|Leydig cell agenesis [RCV001137781] Chr2:48687702 [GRCh38]
Chr2:48914841 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_000233.4(LHCGR):c.*710A>G single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001142417]|Leydig cell agenesis [RCV001142418] Chr2:48686987 [GRCh38]
Chr2:48914126 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.1308G>A (p.Gly436=) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001142636]|Leydig cell agenesis [RCV001142637] Chr2:48688489 [GRCh38]
Chr2:48915628 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.1375G>A (p.Val459Ile) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001140783]|Leydig cell agenesis [RCV001140782] Chr2:48688422 [GRCh38]
Chr2:48915561 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.*22T>G single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001137779]|Leydig cell agenesis [RCV001137780] Chr2:48687675 [GRCh38]
Chr2:48914814 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_000233.4(LHCGR):c.383+114G>C single nucleotide variant not provided [RCV001641998] Chr2:48725562 [GRCh38]
Chr2:48952701 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.606-268G>A single nucleotide variant not provided [RCV001570862] Chr2:48709290 [GRCh38]
Chr2:48936429 [GRCh37]
Chr2:2p16.3
likely benign
NM_000233.4(LHCGR):c.681-193A>G single nucleotide variant not provided [RCV001683959] Chr2:48698993 [GRCh38]
Chr2:48926132 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.680+238G>C single nucleotide variant not provided [RCV001652683] Chr2:48708710 [GRCh38]
Chr2:48935849 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.233+75A>T single nucleotide variant not provided [RCV001658552] Chr2:48731152 [GRCh38]
Chr2:48958291 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.162-158T>C single nucleotide variant not provided [RCV001651387] Chr2:48731456 [GRCh38]
Chr2:48958595 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.309-55T>C single nucleotide variant not provided [RCV001555203] Chr2:48725805 [GRCh38]
Chr2:48952944 [GRCh37]
Chr2:2p16.3
likely benign
NM_000233.4(LHCGR):c.162-210G>A single nucleotide variant not provided [RCV001598787] Chr2:48731508 [GRCh38]
Chr2:48958647 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.234-146T>C single nucleotide variant not provided [RCV001684759] Chr2:48729373 [GRCh38]
Chr2:48956512 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.681-48del deletion not provided [RCV001707350] Chr2:48698848 [GRCh38]
Chr2:48925987 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.866+63G>C single nucleotide variant not provided [RCV001696568] Chr2:48698552 [GRCh38]
Chr2:48925691 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.383+191C>T single nucleotide variant not provided [RCV001676370] Chr2:48725485 [GRCh38]
Chr2:48952624 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.161+165A>G single nucleotide variant not provided [RCV001651767] Chr2:48755346 [GRCh38]
Chr2:48982485 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.948-113G>A single nucleotide variant not provided [RCV001639903] Chr2:48688962 [GRCh38]
Chr2:48916101 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.207C>T (p.Phe69=) single nucleotide variant not provided [RCV000914585] Chr2:48731253 [GRCh38]
Chr2:48958392 [GRCh37]
Chr2:2p16.3
likely benign
NM_000233.4(LHCGR):c.622G>A (p.Val208Ile) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001140895]|Leydig cell agenesis [RCV001140894]|not provided [RCV000908943]|not specified [RCV001818810] Chr2:48709006 [GRCh38]
Chr2:48936145 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_000233.4(LHCGR):c.681-6G>A single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001140142]|Leydig cell agenesis [RCV001140143] Chr2:48698806 [GRCh38]
Chr2:48925945 [GRCh37]
Chr2:2p16.3
benign|uncertain significance
NM_000233.4(LHCGR):c.1752T>C (p.Pro584=) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001140780]|Leydig cell agenesis [RCV001140781] Chr2:48688045 [GRCh38]
Chr2:48915184 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys) single nucleotide variant not provided [RCV000955920] Chr2:48714023 [GRCh38]
Chr2:48941162 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity
NM_000233.4(LHCGR):c.606-298T>C single nucleotide variant not provided [RCV001621386] Chr2:48709320 [GRCh38]
Chr2:48936459 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.867-176A>C single nucleotide variant not provided [RCV001665389] Chr2:48694480 [GRCh38]
Chr2:48921619 [GRCh37]
Chr2:2p16.3
likely benign
NM_000233.4(LHCGR):c.681-243C>G single nucleotide variant not provided [RCV001621505] Chr2:48699043 [GRCh38]
Chr2:48926182 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.383+241G>A single nucleotide variant not provided [RCV001660882] Chr2:48725435 [GRCh38]
Chr2:48952574 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.537-235G>A single nucleotide variant not provided [RCV001595878] Chr2:48714289 [GRCh38]
Chr2:48941428 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.161+28G>C single nucleotide variant not provided [RCV001688279] Chr2:48755483 [GRCh38]
Chr2:48982622 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.680+157A>G single nucleotide variant not provided [RCV001661170] Chr2:48708791 [GRCh38]
Chr2:48935930 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.234-109G>A single nucleotide variant not provided [RCV001616993] Chr2:48729336 [GRCh38]
Chr2:48956475 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.866+25C>T single nucleotide variant not provided [RCV001596349] Chr2:48698590 [GRCh38]
Chr2:48925729 [GRCh37]
Chr2:2p16.3
likely benign
NM_000233.4(LHCGR):c.*747C>A single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001142415]|Leydig cell agenesis [RCV001142416] Chr2:48686950 [GRCh38]
Chr2:48914089 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.*805A>G single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001142413]|Leydig cell agenesis [RCV001142414] Chr2:48686892 [GRCh38]
Chr2:48914031 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.947+4_947+7del deletion Gonadotropin-independent familial sexual precocity [RCV001198285]|Leydig cell agenesis [RCV001027712] Chr2:48694217..48694220 [GRCh38]
Chr2:48921356..48921359 [GRCh37]
Chr2:2p16.3
likely pathogenic|uncertain significance
NM_000233.4(LHCGR):c.233+1G>A single nucleotide variant Leydig cell agenesis [RCV001027713] Chr2:48731226 [GRCh38]
Chr2:48958365 [GRCh37]
Chr2:2p16.3
likely pathogenic
NM_000233.4(LHCGR):c.*443C>T single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001139887]|Leydig cell agenesis [RCV001139886] Chr2:48687254 [GRCh38]
Chr2:48914393 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.371G>A (p.Arg124Gln) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001138000]|Leydig cell agenesis [RCV001138001] Chr2:48725688 [GRCh38]
Chr2:48952827 [GRCh37]
Chr2:2p16.3
benign|uncertain significance
NM_000233.4(LHCGR):c.*894G>T single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001140559]|Leydig cell agenesis [RCV001140560] Chr2:48686803 [GRCh38]
Chr2:48913942 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.*512C>T single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001139884]|Leydig cell agenesis [RCV001139885] Chr2:48687185 [GRCh38]
Chr2:48914324 [GRCh37]
Chr2:2p16.3
benign|uncertain significance
NM_000233.4(LHCGR):c.2072T>C (p.Leu691Pro) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001140024]|Leydig cell agenesis [RCV001140023] Chr2:48687725 [GRCh38]
Chr2:48914864 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.680+81C>T single nucleotide variant not provided [RCV001714601] Chr2:48708867 [GRCh38]
Chr2:48936006 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.234-65A>T single nucleotide variant not provided [RCV001713470] Chr2:48729292 [GRCh38]
Chr2:48956431 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.234-51G>A single nucleotide variant not provided [RCV001713469] Chr2:48729278 [GRCh38]
Chr2:48956417 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.947+195dup duplication not provided [RCV001645372] Chr2:48694022..48694023 [GRCh38]
Chr2:48921161..48921162 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.*192T>C single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001142543]|Leydig cell agenesis [RCV001142542] Chr2:48687505 [GRCh38]
Chr2:48914644 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.*182T>C single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001142545]|Leydig cell agenesis [RCV001142544] Chr2:48687515 [GRCh38]
Chr2:48914654 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.348C>T (p.Pro116=) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001138003]|Leydig cell agenesis [RCV001138002] Chr2:48725711 [GRCh38]
Chr2:48952850 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.707C>T (p.Ala236Val) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001140141]|Leydig cell agenesis [RCV001140140] Chr2:48698774 [GRCh38]
Chr2:48925913 [GRCh37]
Chr2:2p16.3
benign|uncertain significance
NM_000233.4(LHCGR):c.*414T>C single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001139889]|Leydig cell agenesis [RCV001139888] Chr2:48687283 [GRCh38]
Chr2:48914422 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:48834553-49818310)x3 copy number gain not provided [RCV001258517] Chr2:48834553..49818310 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.537-1G>T single nucleotide variant Leydig cell agenesis [RCV001291522] Chr2:48714055 [GRCh38]
Chr2:48941194 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.536+3G>C single nucleotide variant Leydig cell agenesis [RCV001449851] Chr2:48723453 [GRCh38]
Chr2:48950592 [GRCh37]
Chr2:2p16.3
likely pathogenic
NC_000002.11:g.(?_47672677)_(51259192_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV001345333] Chr2:47672677..51259192 [GRCh37]
Chr2:2p21-16.3
uncertain significance
NM_000233.4(LHCGR):c.1573C>T (p.Gln525Ter) single nucleotide variant Gonadotropin-independent familial sexual precocity [RCV001542523] Chr2:48688224 [GRCh38]
Chr2:48915363 [GRCh37]
Chr2:2p16.3
likely pathogenic
NM_000233.4(LHCGR):c.*53dup duplication not provided [RCV001549529] Chr2:48687643..48687644 [GRCh38]
Chr2:48914782..48914783 [GRCh37]
Chr2:2p16.3
likely benign
NM_000233.4(LHCGR):c.680+238= single nucleotide variant not provided [RCV001695092] Chr2:48708710 [GRCh38]
Chr2:48935849 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.383+166C>T single nucleotide variant not provided [RCV001713289] Chr2:48725510 [GRCh38]
Chr2:48952649 [GRCh37]
Chr2:2p16.3
benign
NM_001198593.2(STON1-GTF2A1L):c.3442-20197T>G single nucleotide variant not provided [RCV001687872] Chr2:48756083 [GRCh38]
Chr2:48983222 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.162-250C>A single nucleotide variant not provided [RCV001617079] Chr2:48731548 [GRCh38]
Chr2:48958687 [GRCh37]
Chr2:2p16.3
benign
NM_000233.4(LHCGR):c.1150C>A (p.Leu384Ile) single nucleotide variant not provided [RCV001772757] Chr2:48688647 [GRCh38]
Chr2:48915786 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.866A>G (p.Glu289Gly) single nucleotide variant not provided [RCV001751908] Chr2:48698615 [GRCh38]
Chr2:48925754 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.35_36insCA (p.Lys12fs) insertion not provided [RCV001817636] Chr2:48755636..48755637 [GRCh38]
Chr2:48982775..48982776 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1787T>G (p.Val596Gly) single nucleotide variant not specified [RCV001819528] Chr2:48688010 [GRCh38]
Chr2:48915149 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.353C>T (p.Ala118Val) single nucleotide variant Leydig cell agenesis [RCV001823541] Chr2:48725706 [GRCh38]
Chr2:48952845 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:48770520-49478424)x3 copy number gain not provided [RCV001829163] Chr2:48770520..49478424 [GRCh37]
Chr2:2p16.3
uncertain significance
NC_000002.11:g.(?_48018046)_(50170949_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV001893873]|not provided [RCV001893874] Chr2:48018046..50170949 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.1510G>A (p.Gly504Ser) single nucleotide variant not provided [RCV001871224] Chr2:48688287 [GRCh38]
Chr2:48915426 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.1691A>T (p.Asp564Val) single nucleotide variant not provided [RCV001949425] Chr2:48688106 [GRCh38]
Chr2:48915245 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.26_43dup (p.Gln9_Leu14dup) duplication not provided [RCV001909576] Chr2:48755628..48755629 [GRCh38]
Chr2:48982767..48982768 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.34_51del (p.Lys12_Leu17del) deletion not provided [RCV001897838] Chr2:48755621..48755638 [GRCh38]
Chr2:48982760..48982777 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.1713G>T (p.Met571Ile) single nucleotide variant not provided [RCV001886947] Chr2:48688084 [GRCh38]
Chr2:48915223 [GRCh37]
Chr2:2p16.3
pathogenic
NM_000233.4(LHCGR):c.1868A>C (p.Tyr623Ser) single nucleotide variant not provided [RCV002011029] Chr2:48687929 [GRCh38]
Chr2:48915068 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.1097T>C (p.Ile366Thr) single nucleotide variant not provided [RCV001875293] Chr2:48688700 [GRCh38]
Chr2:48915839 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.1345G>A (p.Ala449Thr) single nucleotide variant not provided [RCV001955591] Chr2:48688452 [GRCh38]
Chr2:48915591 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.671C>T (p.Pro224Leu) single nucleotide variant not provided [RCV002223569] Chr2:48708957 [GRCh38]
Chr2:48936096 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_000233.4(LHCGR):c.1590C>A (p.Thr530=) single nucleotide variant not provided [RCV002106977] Chr2:48688207 [GRCh38]
Chr2:48915346 [GRCh37]
Chr2:2p16.3
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000233.4(LHCGR):c.47T>A (p.Leu16Gln) single nucleotide variant Testicular regression syndrome [RCV002227395] Chr2:48755625 [GRCh38]
Chr2:48982764 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6585 AgrOrtholog
COSMIC LHCGR COSMIC
Ensembl Genes ENSG00000138039 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000294954 ENTREZGENE
  ENSP00000294954.6 UniProtKB/Swiss-Prot
  ENSP00000385406.1 UniProtKB/TrEMBL
  ENSP00000385847.1 UniProtKB/TrEMBL
  ENSP00000386033.1 UniProtKB/TrEMBL
  ENSP00000403748.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000294954 ENTREZGENE
  ENST00000294954.12 UniProtKB/Swiss-Prot
  ENST00000401907.5 UniProtKB/TrEMBL
  ENST00000403273.5 UniProtKB/TrEMBL
  ENST00000405626.5 UniProtKB/TrEMBL
  ENST00000428232.2 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138039 GTEx
HGNC ID HGNC:6585 ENTREZGENE
Human Proteome Map LHCGR Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gphrmn_rcpt_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LSH_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3973 UniProtKB/Swiss-Prot
NCBI Gene 3973 ENTREZGENE
OMIM 152790 OMIM
  176410 OMIM
  238320 OMIM
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30357 PharmGKB
PRINTS GLYCHORMONER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LSHRECEPTOR 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
UniProt E7ENI1_HUMAN UniProtKB/TrEMBL
  E7EQB5_HUMAN UniProtKB/TrEMBL
  E7ESK4_HUMAN UniProtKB/TrEMBL
  H7C226_HUMAN UniProtKB/TrEMBL
  LSHR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4ZFZ4_HUMAN UniProtKB/TrEMBL
  Q9UEW9 ENTREZGENE
UniProt Secondary Q14751 UniProtKB/Swiss-Prot
  Q15996 UniProtKB/Swiss-Prot
  Q9UEW9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 LHCGR  luteinizing hormone/choriogonadotropin receptor  HHG  hypergonadotropic hypogonadism  Data Merged 737654 PROVISIONAL
2011-08-16 LHCGR  luteinizing hormone/choriogonadotropin receptor  LHCGR  luteinizing hormone/choriogonadotropin receptor  Symbol and/or name change 5135510 APPROVED