GNRHR (gonadotropin releasing hormone receptor) - Rat Genome Database

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Gene: GNRHR (gonadotropin releasing hormone receptor) Homo sapiens
Analyze
Symbol: GNRHR
Name: gonadotropin releasing hormone receptor
RGD ID: 737339
HGNC Page HGNC
Description: Predicted to enable gonadotropin-releasing hormone receptor activity and peptide binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway and circadian rhythm. Predicted to be located in plasma membrane. Predicted to be integral component of plasma membrane. Implicated in hypogonadotropic hypogonadism 7 with or without anosmia. Biomarker of primary sclerosing cholangitis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: gnRH receptor; gnRH-R; GNRHR1; gonadotropin-releasing hormone (type 1) receptor 1; gonadotropin-releasing hormone receptor; GRHR; HH7; leutinizing hormone releasing horomone receptor; leutinizing-releasing hormone receptor; LHRHR; LRHR; luliberin receptor; type I GnRH receptor
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
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
GRCh38.p13 Ensembl467,737,118 - 67,754,388 (-)EnsemblGRCh38hg38GRCh38
GRCh38467,737,118 - 67,754,388 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37468,602,836 - 68,620,106 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36468,285,688 - 68,304,399 (-)NCBINCBI36hg18NCBI36
Build 34468,434,963 - 68,450,570NCBI
Celera466,065,459 - 66,084,171 (-)NCBI
Cytogenetic Map4q13.2NCBI
HuRef464,516,278 - 64,534,988 (-)NCBIHuRef
CHM1_1468,640,204 - 68,658,910 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1333190   PMID:7534732   PMID:7613048   PMID:7768323   PMID:7958384   PMID:8386108   PMID:8472841   PMID:9259321   PMID:9272108   PMID:9371856   PMID:9414473   PMID:9425890  
PMID:10022417   PMID:10084584   PMID:10366411   PMID:10523035   PMID:10686191   PMID:10999776   PMID:11278883   PMID:11318785   PMID:11397842   PMID:11397871   PMID:11981042   PMID:11994356  
PMID:11997175   PMID:12040003   PMID:12050282   PMID:12054603   PMID:12062898   PMID:12089350   PMID:12161512   PMID:12446597   PMID:12477932   PMID:12568864   PMID:12679486   PMID:12788881  
PMID:12843188   PMID:12947046   PMID:14551223   PMID:14565958   PMID:14726258   PMID:15105440   PMID:15149726   PMID:15489334   PMID:15529183   PMID:15546906   PMID:15563546   PMID:15761034  
PMID:15886197   PMID:16213849   PMID:16301116   PMID:16322390   PMID:16359986   PMID:16364974   PMID:16613990   PMID:16754659   PMID:16968799   PMID:17170088   PMID:17179725   PMID:17452338  
PMID:17710733   PMID:17942747   PMID:18240029   PMID:18252959   PMID:18356273   PMID:18463157   PMID:18541137   PMID:18682503   PMID:18980792   PMID:19064572   PMID:19086053   PMID:19095769  
PMID:19190109   PMID:19246515   PMID:19372239   PMID:19449676   PMID:19453261   PMID:19489874   PMID:19640273   PMID:19724914   PMID:19787259   PMID:19858197   PMID:20182875   PMID:20236028  
PMID:20301509   PMID:20400076   PMID:20507982   PMID:20628612   PMID:20634197   PMID:20670943   PMID:20734064   PMID:20836995   PMID:21274726   PMID:21277937   PMID:21317933   PMID:21330483  
PMID:21527534   PMID:21717411   PMID:21832286   PMID:21873635   PMID:22024993   PMID:22623531   PMID:22679506   PMID:22710726   PMID:22724017   PMID:22745237   PMID:22766261   PMID:22778172  
PMID:22788855   PMID:23155690   PMID:23176180   PMID:23233674   PMID:23287110   PMID:23380421   PMID:23632635   PMID:23891857   PMID:23994024   PMID:24002956   PMID:24472523   PMID:24685158  
PMID:24732674   PMID:25016926   PMID:25293576   PMID:25531638   PMID:25592315   PMID:26044071   PMID:26308290   PMID:26644469   PMID:26920257   PMID:27196470   PMID:28298427   PMID:28348023  
PMID:28514442   PMID:28709956   PMID:29544634   PMID:29777911   PMID:30415482   PMID:30476558   PMID:30926640   PMID:30947225   PMID:31188427   PMID:31614426   PMID:31703269   PMID:32156725  
PMID:32319606   PMID:32352843   PMID:33082324   PMID:33652606   PMID:33961781   PMID:34013495   PMID:34209056   PMID:34297503  


Genomics

Comparative Map Data
GNRHR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl467,737,118 - 67,754,388 (-)EnsemblGRCh38hg38GRCh38
GRCh38467,737,118 - 67,754,388 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37468,602,836 - 68,620,106 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36468,285,688 - 68,304,399 (-)NCBINCBI36hg18NCBI36
Build 34468,434,963 - 68,450,570NCBI
Celera466,065,459 - 66,084,171 (-)NCBI
Cytogenetic Map4q13.2NCBI
HuRef464,516,278 - 64,534,988 (-)NCBIHuRef
CHM1_1468,640,204 - 68,658,910 (-)NCBICHM1_1
Gnrhr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39586,328,613 - 86,345,760 (-)NCBIGRCm39mm39
GRCm39 Ensembl586,328,613 - 86,345,760 (-)Ensembl
GRCm38586,180,754 - 86,197,901 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl586,180,754 - 86,197,901 (-)EnsemblGRCm38mm10GRCm38
MGSCv37586,611,019 - 86,626,895 (-)NCBIGRCm37mm9NCBIm37
MGSCv36587,256,555 - 87,272,431 (-)NCBImm8
Celera583,413,347 - 83,430,921 (-)NCBICelera
Cytogenetic Map5E1NCBI
cM Map543.56NCBI
Gnrhr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21421,856,871 - 21,874,861 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1421,856,871 - 21,874,861 (+)Ensembl
Rnor_6.01423,480,462 - 23,498,450 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1423,480,462 - 23,498,450 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01423,384,861 - 23,402,815 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41423,625,135 - 23,656,583 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11423,625,137 - 23,656,250 (+)NCBI
Celera1421,327,308 - 21,348,471 (+)NCBICelera
Cytogenetic Map14p21NCBI
GNRHR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1462,687,474 - 62,706,179 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl462,687,474 - 62,706,167 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0456,295,425 - 56,314,962 (+)NCBIMhudiblu_PPA_v0panPan3
GNRHR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11358,253,112 - 58,266,600 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1358,253,027 - 58,266,705 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1358,168,278 - 58,181,765 (-)NCBI
ROS_Cfam_1.01358,865,514 - 58,878,973 (-)NCBI
ROS_Cfam_1.0 Ensembl1358,865,514 - 58,878,973 (-)Ensembl
UMICH_Zoey_3.11358,590,137 - 58,603,620 (-)NCBI
UNSW_CanFamBas_1.01358,080,483 - 58,093,952 (-)NCBI
UU_Cfam_GSD_1.01359,090,982 - 59,104,477 (-)NCBI
Gnrhr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528518,185,844 - 18,202,017 (+)NCBI
SpeTri2.0NW_004936582749,016 - 765,189 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GNRHR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.171,205,294 - 1,225,105 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660661,294,292 - 1,311,901 (+)NCBIVero_WHO_p1.0
Gnrhr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247611,216,501 - 1,231,229 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
WI-16095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37468,609,162 - 68,609,266UniSTSGRCh37
Build 36468,291,757 - 68,291,861RGDNCBI36
Celera466,071,528 - 66,071,632RGD
Cytogenetic Map4q21.2UniSTS
HuRef464,522,347 - 64,522,451UniSTS
GeneMap99-GB4 RH Map4422.68UniSTS
Whitehead-RH Map4476.6UniSTS
SHGC-60090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37468,605,602 - 68,605,792UniSTSGRCh37
Build 36468,288,197 - 68,288,387RGDNCBI36
Celera466,067,968 - 66,068,158RGD
Cytogenetic Map4q21.2UniSTS
HuRef464,518,787 - 64,518,977UniSTS
TNG Radiation Hybrid Map437338.0UniSTS
D4S3174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37468,605,162 - 68,605,276UniSTSGRCh37
Build 36468,287,757 - 68,287,871RGDNCBI36
Celera466,067,528 - 66,067,642RGD
Cytogenetic Map4q21.2UniSTS
HuRef464,518,347 - 64,518,461UniSTS
Stanford-G3 RH Map43814.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map4808.3UniSTS
SHGC-59524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37468,606,042 - 68,606,165UniSTSGRCh37
Build 36468,288,637 - 68,288,760RGDNCBI36
Celera466,068,408 - 66,068,531RGD
Cytogenetic Map4q21.2UniSTS
HuRef464,519,227 - 64,519,350UniSTS
GeneMap99-GB4 RH Map4401.07UniSTS
NCBI RH Map4822.7UniSTS
GNRHR  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37468,619,636 - 68,619,894UniSTSGRCh37
Build 36468,302,231 - 68,302,489RGDNCBI36
Celera466,082,003 - 66,082,261RGD
HuRef464,532,821 - 64,533,079UniSTS
GDB:437520  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q21.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:435
Count of miRNA genes:350
Interacting mature miRNAs:370
Transcripts:ENST00000226413, ENST00000420975
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 96 95 5 3
Low 37 46 414 41 300 21 193 15 692 58 212 254 22 5 170
Below cutoff 2152 2170 1070 462 967 322 3439 1688 2794 308 1122 1193 147 1002 2173 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001012763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC079880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY392011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS052866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L03380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S60587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z81148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000226413   ⟹   ENSP00000226413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl467,737,118 - 67,754,388 (-)Ensembl
RefSeq Acc Id: ENST00000420975   ⟹   ENSP00000397561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl467,740,480 - 67,754,335 (-)Ensembl
RefSeq Acc Id: NM_000406   ⟹   NP_000397
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38467,737,118 - 67,754,388 (-)NCBI
GRCh37468,603,093 - 68,621,804 (-)ENTREZGENE
Build 36468,285,688 - 68,304,399 (-)NCBI Archive
HuRef464,516,278 - 64,534,988 (-)ENTREZGENE
CHM1_1468,640,204 - 68,658,910 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001012763   ⟹   NP_001012781
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38467,737,375 - 67,754,388 (-)NCBI
GRCh37468,603,093 - 68,621,804 (-)ENTREZGENE
Build 36468,285,688 - 68,304,399 (-)NCBI Archive
HuRef464,516,278 - 64,534,988 (-)ENTREZGENE
CHM1_1468,640,204 - 68,658,910 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001012781   ⟸   NM_001012763
- Peptide Label: isoform 2
- UniProtKB: P30968 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000397   ⟸   NM_000406
- Peptide Label: isoform 1
- UniProtKB: P30968 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000397561   ⟸   ENST00000420975
RefSeq Acc Id: ENSP00000226413   ⟸   ENST00000226413
Protein Domains
G_PROTEIN_RECEP_F1_2

Promoters
RGD ID:6867566
Promoter ID:EPDNEW_H6948
Type:initiation region
Name:GNRHR_1
Description:gonadotropin releasing hormone 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
GRCh38467,754,388 - 67,754,448EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000406.3(GNRHR):c.189G>C (p.Trp63Cys) single nucleotide variant not provided [RCV000523656] Chr4:67754147 [GRCh38]
Chr4:68619865 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030908]|not provided [RCV000494391] Chr4:67740682 [GRCh38]
Chr4:68606400 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030909] Chr4:67740616 [GRCh38]
Chr4:68606334 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.386C>A (p.Ala129Asp) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030910] Chr4:67753950 [GRCh38]
Chr4:68619668 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.651C>A (p.Ser217Arg) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030911] Chr4:67744659 [GRCh38]
Chr4:68610377 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030912] Chr4:67753832 [GRCh38]
Chr4:68619550 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.941T>A (p.Leu314Ter) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030913] Chr4:67740526 [GRCh38]
Chr4:68606244 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.416G>A (p.Arg139His) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030914]|not provided [RCV000497820] Chr4:67753920 [GRCh38]
Chr4:68619638 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030915]|Isolated GnRH Deficiency [RCV000375229] Chr4:67754306 [GRCh38]
Chr4:68620024 [GRCh37]
Chr4:4q13.2
pathogenic|likely pathogenic
NM_000406.3(GNRHR):c.268G>A (p.Glu90Lys) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030916]|not provided [RCV001560549] Chr4:67754068 [GRCh38]
Chr4:68619786 [GRCh37]
Chr4:4q13.2
pathogenic|likely pathogenic
NM_000406.3(GNRHR):c.523-1G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030917] Chr4:67744788 [GRCh38]
Chr4:68610506 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.511G>A (p.Ala171Thr) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030918] Chr4:67753825 [GRCh38]
Chr4:68619543 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.959C>T (p.Pro320Leu) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030920] Chr4:67740508 [GRCh38]
Chr4:68606226 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) single nucleotide variant Gonadotropin deficiency [RCV000662016]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000190591]|Infertility [RCV001327939]|Isolated congenital hypogonadotropic hypogonadism [RCV000599632]|not provided [RCV000255385] Chr4:67754019 [GRCh38]
Chr4:68619737 [GRCh37]
Chr4:4q13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000765786]|not provided [RCV000523077] Chr4:67753900 [GRCh38]
Chr4:68619618 [GRCh37]
Chr4:4q13.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1 copy number loss See cases [RCV000050704] Chr4:66842408..70831557 [GRCh38]
Chr4:67708126..71697274 [GRCh37]
Chr4:67390721..71916138 [NCBI36]
Chr4:4q13.2-13.3
pathogenic
GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3 copy number gain See cases [RCV000051038] Chr4:65873016..68743024 [GRCh38]
Chr4:66738734..69608742 [GRCh37]
Chr4:66421329..69643331 [NCBI36]
Chr4:4q13.2
uncertain significance
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3
pathogenic
GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1 copy number loss See cases [RCV000053293] Chr4:65454562..72313693 [GRCh38]
Chr4:66320280..73179410 [GRCh37]
Chr4:66002875..73398274 [NCBI36]
Chr4:4q13.1-13.3
pathogenic
NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000114424] Chr4:67740625 [GRCh38]
Chr4:68606343 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000114425] Chr4:67754242 [GRCh38]
Chr4:68619960 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.392T>C (p.Met131Thr) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000128826] Chr4:67753944 [GRCh38]
Chr4:68619662 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.806C>T (p.Thr269Met) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000128827] Chr4:67740661 [GRCh38]
Chr4:68606379 [GRCh37]
Chr4:4q13.2
pathogenic
GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1 copy number loss See cases [RCV000142366] Chr4:67744481..70267689 [GRCh38]
Chr4:68610199..71133406 [GRCh37]
Chr4:68292794..71167995 [NCBI36]
Chr4:4q13.2-13.3
uncertain significance
NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg) single nucleotide variant Delayed puberty [RCV000156945]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000995775] Chr4:67753986 [GRCh38]
Chr4:68619704 [GRCh37]
Chr4:4q13.2
pathogenic|likely pathogenic
NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys) indel Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030919]|not provided [RCV000498552] Chr4:67754305..67754306 [GRCh38]
Chr4:68620023..68620024 [GRCh37]
Chr4:4q13.2
pathogenic|likely pathogenic
NM_000406.2(GNRHR):c.-1239T>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000261188] Chr4:67755574 [GRCh38]
Chr4:68621292 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-107C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000278514] Chr4:67754442 [GRCh38]
Chr4:68620160 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-1570C>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000286221]|not provided [RCV001613154] Chr4:67755905 [GRCh38]
Chr4:68621623 [GRCh37]
Chr4:4q13.2
benign|likely benign|uncertain significance
NM_000406.3(GNRHR):c.*809C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000281409] Chr4:67739671 [GRCh38]
Chr4:68605389 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.3(GNRHR):c.523-15del deletion Isolated GnRH Deficiency [RCV000270618] Chr4:67744802 [GRCh38]
Chr4:68610520 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*1654C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000276419] Chr4:67738826 [GRCh38]
Chr4:68604544 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*2919A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000276892] Chr4:67737561 [GRCh38]
Chr4:68603279 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*730T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000298913] Chr4:67739750 [GRCh38]
Chr4:68605468 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-1255T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000332699] Chr4:67755590 [GRCh38]
Chr4:68621308 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.3(GNRHR):c.*1575del deletion Isolated GnRH Deficiency [RCV000315384] Chr4:67738905 [GRCh38]
Chr4:68604623 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-1144T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000353486] Chr4:67755479 [GRCh38]
Chr4:68621197 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.3(GNRHR):c.*1891T>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000354694] Chr4:67738589 [GRCh38]
Chr4:68604307 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.2(GNRHR):c.-224A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000317207]|not provided [RCV001672646] Chr4:67754559 [GRCh38]
Chr4:68620277 [GRCh37]
Chr4:4q13.2
benign
NM_000406.2(GNRHR):c.-1563T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000400962] Chr4:67755898 [GRCh38]
Chr4:68621616 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.31C>A (p.Gln11Lys) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001782857]|Isolated GnRH Deficiency [RCV000318227] Chr4:67754305 [GRCh38]
Chr4:68620023 [GRCh37]
Chr4:4q13.2
likely pathogenic
NM_000406.2(GNRHR):c.-62G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000357929]|not provided [RCV001672645] Chr4:67754397 [GRCh38]
Chr4:68620115 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.2(GNRHR):c.-1059G>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000319911] Chr4:67755394 [GRCh38]
Chr4:68621112 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*806G>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000338745] Chr4:67739674 [GRCh38]
Chr4:68605392 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*829T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000338992] Chr4:67739651 [GRCh38]
Chr4:68605369 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.3(GNRHR):c.*2166G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000381028] Chr4:67738314 [GRCh38]
Chr4:68604032 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.3(GNRHR):c.*2496G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000290190] Chr4:67737984 [GRCh38]
Chr4:68603702 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.2(GNRHR):c.-1434A>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000383856] Chr4:67755769 [GRCh38]
Chr4:68621487 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-1497C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000291948]|not provided [RCV001692005] Chr4:67755832 [GRCh38]
Chr4:68621550 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.3(GNRHR):c.453C>T (p.Ser151=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000323308]|not provided [RCV001660731]|not specified [RCV000518057] Chr4:67753883 [GRCh38]
Chr4:68619601 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.3(GNRHR):c.*2055G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000343215] Chr4:67738425 [GRCh38]
Chr4:68604143 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.3(GNRHR):c.648C>T (p.Phe216=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000362731]|not provided [RCV000898629]|not specified [RCV000600986] Chr4:67744662 [GRCh38]
Chr4:68610380 [GRCh37]
Chr4:4q13.2
likely benign|uncertain significance
NM_000406.2(GNRHR):c.-904A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000307832] Chr4:67755239 [GRCh38]
Chr4:68620957 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.2(GNRHR):c.-1636T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000343526] Chr4:67755971 [GRCh38]
Chr4:68621689 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*2663G>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000386570] Chr4:67737817 [GRCh38]
Chr4:68603535 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.2(GNRHR):c.-1311A>G single nucleotide variant Isolated GnRH Deficiency [RCV000293123] Chr4:67755646 [GRCh38]
Chr4:68621364 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-1533delT deletion Isolated GnRH Deficiency [RCV000344654]|not provided [RCV001683391] Chr4:67755868 [GRCh38]
Chr4:68621586 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.2(GNRHR):c.-1279G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000389546] Chr4:67755614 [GRCh38]
Chr4:68621332 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.3(GNRHR):c.*1155del deletion Isolated GnRH Deficiency [RCV000327224] Chr4:67739325 [GRCh38]
Chr4:68605043 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*1260G>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000328188] Chr4:67739220 [GRCh38]
Chr4:68604938 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.2(GNRHR):c.-731C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000347516] Chr4:67755066 [GRCh38]
Chr4:68620784 [GRCh37]
Chr4:4q13.2
likely benign
NM_000406.3(GNRHR):c.*2328A>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000347457] Chr4:67738152 [GRCh38]
Chr4:68603870 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*1347A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000367705] Chr4:67739133 [GRCh38]
Chr4:68604851 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-541G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000296214] Chr4:67754876 [GRCh38]
Chr4:68620594 [GRCh37]
Chr4:4q13.2
likely benign|uncertain significance
NM_000406.3(GNRHR):c.*495T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000311635] Chr4:67739985 [GRCh38]
Chr4:68605703 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*2802T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000329663] Chr4:67737678 [GRCh38]
Chr4:68603396 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*802G>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000393012] Chr4:67739678 [GRCh38]
Chr4:68605396 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.3(GNRHR):c.*1892C>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000297476] Chr4:67738588 [GRCh38]
Chr4:68604306 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*583A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000351476] Chr4:67739897 [GRCh38]
Chr4:68605615 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.3(GNRHR):c.*1193C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000269685] Chr4:67739287 [GRCh38]
Chr4:68605005 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-991A>G single nucleotide variant Isolated GnRH Deficiency [RCV000262395] Chr4:67755326 [GRCh38]
Chr4:68621044 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*1295dup duplication Isolated GnRH Deficiency [RCV000275376] Chr4:67739184..67739185 [GRCh38]
Chr4:68604902..68604903 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*2032dup duplication Isolated GnRH Deficiency [RCV000392902] Chr4:67738447..67738448 [GRCh38]
Chr4:68604165..68604166 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*513dup duplication Isolated GnRH Deficiency [RCV000393015] Chr4:67739966..67739967 [GRCh38]
Chr4:68605684..68605685 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-962G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000302326] Chr4:67755297 [GRCh38]
Chr4:68621015 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*2031dup duplication Isolated GnRH Deficiency [RCV000303560] Chr4:67738448..67738449 [GRCh38]
Chr4:68604166..68604167 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-1319C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000331740] Chr4:67755654 [GRCh38]
Chr4:68621372 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*1948C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000402441] Chr4:67738532 [GRCh38]
Chr4:68604250 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-576G>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000348253] Chr4:67754911 [GRCh38]
Chr4:68620629 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*1248A>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000385229] Chr4:67739232 [GRCh38]
Chr4:68604950 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.773T>C (p.Ile258Thr) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000404324] Chr4:67740694 [GRCh38]
Chr4:68606412 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*349A>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000368769] Chr4:67740131 [GRCh38]
Chr4:68605849 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-927C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000406118] Chr4:67755262 [GRCh38]
Chr4:68620980 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*3076T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000387672] Chr4:67737404 [GRCh38]
Chr4:68603122 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-507_-503delAGAAA deletion Isolated GnRH Deficiency [RCV000388172] Chr4:67754838..67754842 [GRCh38]
Chr4:68620556..68620560 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*1984T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000337424] Chr4:67738496 [GRCh38]
Chr4:68604214 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*832T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000286281] Chr4:67739648 [GRCh38]
Chr4:68605366 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-1741G>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000391643] Chr4:67756076 [GRCh38]
Chr4:68621794 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.743-9A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000310316] Chr4:67740733 [GRCh38]
Chr4:68606451 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-877C>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000392473] Chr4:67755212 [GRCh38]
Chr4:68620930 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-683T>G single nucleotide variant Isolated GnRH Deficiency [RCV000392502] Chr4:67755018 [GRCh38]
Chr4:68620736 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*2165A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000288940] Chr4:67738315 [GRCh38]
Chr4:68604033 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-980G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000359378] Chr4:67755315 [GRCh38]
Chr4:68621033 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-922A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000360097] Chr4:67755257 [GRCh38]
Chr4:68620975 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*819A>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000377281] Chr4:67739661 [GRCh38]
Chr4:68605379 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.2(GNRHR):c.-721A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000290252] Chr4:67755056 [GRCh38]
Chr4:68620774 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*1144A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000379451] Chr4:67739336 [GRCh38]
Chr4:68605054 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*1302G>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151692] Chr4:67739178 [GRCh38]
Chr4:68604896 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.143T>C (p.Leu48Pro) single nucleotide variant not provided [RCV000585491] Chr4:67754193 [GRCh38]
Chr4:68619911 [GRCh37]
Chr4:4q13.2
uncertain significance
GRCh37/hg19 4q13.2(chr4:68267070-69203425)x3 copy number gain See cases [RCV000449358] Chr4:68267070..69203425 [GRCh37]
Chr4:4q13.2
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_000406.3(GNRHR):c.633T>A (p.Tyr211Ter) single nucleotide variant not provided [RCV000418487] Chr4:67744677 [GRCh38]
Chr4:68610395 [GRCh37]
Chr4:4q13.2
pathogenic
GRCh37/hg19 4q13.2(chr4:67997060-69198391)x3 copy number gain See cases [RCV000447856] Chr4:67997060..69198391 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.413A>G (p.Asp138Gly) single nucleotide variant not provided [RCV000478033] Chr4:67753923 [GRCh38]
Chr4:68619641 [GRCh37]
Chr4:4q13.2
likely pathogenic
GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1 copy number loss See cases [RCV000510445] Chr4:66017575..76772947 [GRCh37]
Chr4:4q13.1-21.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3 copy number gain not provided [RCV000682409] Chr4:64705501..73469716 [GRCh37]
Chr4:4q13.1-13.3
pathogenic
GRCh37/hg19 4q13.1-13.2(chr4:65395609-69170853)x1 copy number loss not provided [RCV000682411] Chr4:65395609..69170853 [GRCh37]
Chr4:4q13.1-13.2
uncertain significance
GRCh37/hg19 4q12-13.3(chr4:58332294-71587615)x1 copy number loss not provided [RCV000743602] Chr4:58332294..71587615 [GRCh37]
Chr4:4q12-13.3
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
Single allele deletion not provided [RCV001612916] Chr4:67756227..67756236 [GRCh38]
Chr4:68621945..68621954 [GRCh37]
Chr4:4q13.2
benign
NM_000406.3(GNRHR):c.719G>A (p.Arg240Gln) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001336843]|not provided [RCV000903894] Chr4:67744591 [GRCh38]
Chr4:68610309 [GRCh37]
Chr4:4q13.2
likely benign|uncertain significance
NM_000406.3(GNRHR):c.281T>C (p.Val94Ala) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000779451] Chr4:67754055 [GRCh38]
Chr4:68619773 [GRCh37]
Chr4:4q13.2
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787447] Chr4:61605456..68762943 [GRCh37]
Chr4:4q13.1-13.2
likely pathogenic
NM_000406.3(GNRHR):c.144C>G (p.Leu48=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153044]|not provided [RCV000966915] Chr4:67754192 [GRCh38]
Chr4:68619910 [GRCh37]
Chr4:4q13.2
benign|likely benign
NM_000406.3(GNRHR):c.51C>A (p.Ile17=) single nucleotide variant not provided [RCV000917399] Chr4:67754285 [GRCh38]
Chr4:68620003 [GRCh37]
Chr4:4q13.2
likely benign
NM_000406.3(GNRHR):c.981T>C (p.Ser327=) single nucleotide variant not provided [RCV000958738] Chr4:67740486 [GRCh38]
Chr4:68606204 [GRCh37]
Chr4:4q13.2
benign
NM_000406.3(GNRHR):c.*1797A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151690] Chr4:67738683 [GRCh38]
Chr4:68604401 [GRCh37]
Chr4:4q13.2
uncertain significance
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 copy number gain not provided [RCV000845944] Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22
pathogenic
NC_000004.12:g.67755586A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151896] Chr4:67755586 [GRCh38]
Chr4:68621304 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.399G>A (p.Val133=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153042] Chr4:67753937 [GRCh38]
Chr4:68619655 [GRCh37]
Chr4:4q13.2
uncertain significance
NC_000004.12:g.67756036T>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153156] Chr4:67756036 [GRCh38]
Chr4:68621754 [GRCh37]
Chr4:4q13.2
uncertain significance
GRCh37/hg19 4q13.2(chr4:67392949-69837294)x3 copy number gain not provided [RCV001005552] Chr4:67392949..69837294 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*2588C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155468] Chr4:67737892 [GRCh38]
Chr4:68603610 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.783A>G (p.Ala261=) single nucleotide variant not provided [RCV000890475] Chr4:67740684 [GRCh38]
Chr4:68606402 [GRCh37]
Chr4:4q13.2
likely benign
Single allele duplication not provided [RCV001572075] Chr4:67756237..67756238 [GRCh38]
Chr4:68621955..68621956 [GRCh37]
Chr4:4q13.2
likely benign
NM_000406.3(GNRHR):c.*696A>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155567] Chr4:67739784 [GRCh38]
Chr4:68605502 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*2248T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157145] Chr4:67738232 [GRCh38]
Chr4:68603950 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*668G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157251] Chr4:67739812 [GRCh38]
Chr4:68605530 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*466T>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157255] Chr4:67740014 [GRCh38]
Chr4:68605732 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*385A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157256] Chr4:67740095 [GRCh38]
Chr4:68605813 [GRCh37]
Chr4:4q13.2
likely benign
NM_000406.3(GNRHR):c.*2196G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157147] Chr4:67738284 [GRCh38]
Chr4:68604002 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*662T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157252] Chr4:67739818 [GRCh38]
Chr4:68605536 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*193A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151793] Chr4:67740287 [GRCh38]
Chr4:68606005 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.666C>T (p.Ile222=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151794] Chr4:67744644 [GRCh38]
Chr4:68610362 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.576T>C (p.Val192=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151795] Chr4:67744734 [GRCh38]
Chr4:68610452 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.215A>G (p.Lys72Arg) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153043] Chr4:67754121 [GRCh38]
Chr4:68619839 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*1301A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001152929] Chr4:67739179 [GRCh38]
Chr4:68604897 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*1275G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001152930] Chr4:67739205 [GRCh38]
Chr4:68604923 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.12T>G (p.Ser4Arg) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153045] Chr4:67754324 [GRCh38]
Chr4:68620042 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*2748C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155467] Chr4:67737732 [GRCh38]
Chr4:68603450 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.465C>T (p.Val155=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151796] Chr4:67753871 [GRCh38]
Chr4:68619589 [GRCh37]
Chr4:4q13.2
uncertain significance
GRCh37/hg19 4q13.2(chr4:66969699-69462438)x3 copy number gain Cognitive impairment [RCV001004821] Chr4:66969699..69462438 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*78G>A single nucleotide variant not provided [RCV001547866] Chr4:67740402 [GRCh38]
Chr4:68606120 [GRCh37]
Chr4:4q13.2
likely benign
NM_000406.3(GNRHR):c.*1532C>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151691] Chr4:67738948 [GRCh38]
Chr4:68604666 [GRCh37]
Chr4:4q13.2
uncertain significance
NC_000004.12:g.67755799C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151897] Chr4:67755799 [GRCh38]
Chr4:68621517 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*2772A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155465] Chr4:67737708 [GRCh38]
Chr4:68603426 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*2244T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157146] Chr4:67738236 [GRCh38]
Chr4:68603954 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*622T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157253] Chr4:67739858 [GRCh38]
Chr4:68605576 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*474T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157254] Chr4:67740006 [GRCh38]
Chr4:68605724 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.-8G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153046]|not provided [RCV001759909] Chr4:67754343 [GRCh38]
Chr4:68620061 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*2441T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155469] Chr4:67738039 [GRCh38]
Chr4:68603757 [GRCh37]
Chr4:4q13.2
likely benign
NC_000004.12:g.67755034A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155666] Chr4:67755034 [GRCh38]
Chr4:68620752 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*3011T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001154629] Chr4:67737469 [GRCh38]
Chr4:68603187 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*2767T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155466] Chr4:67737713 [GRCh38]
Chr4:68603431 [GRCh37]
Chr4:4q13.2
likely benign
NM_000406.3(GNRHR):c.*928C>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001152931] Chr4:67739552 [GRCh38]
Chr4:68605270 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.*912C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001152932] Chr4:67739568 [GRCh38]
Chr4:68605286 [GRCh37]
Chr4:4q13.2
uncertain significance
NC_000004.12:g.67756037T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153157] Chr4:67756037 [GRCh38]
Chr4:68621755 [GRCh37]
Chr4:4q13.2
uncertain significance
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Partial albinism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1
pathogenic
NM_000406.3(GNRHR):c.742+35C>T single nucleotide variant not provided [RCV001666811] Chr4:67744533 [GRCh38]
Chr4:68610251 [GRCh37]
Chr4:4q13.2
benign
NM_000406.3(GNRHR):c.836G>A (p.Cys279Tyr) single nucleotide variant not provided [RCV001733271] Chr4:67740631 [GRCh38]
Chr4:68606349 [GRCh37]
Chr4:4q13.2
pathogenic
NM_000406.3(GNRHR):c.677T>C (p.Ile226Thr) single nucleotide variant not provided [RCV001767389] Chr4:67744633 [GRCh38]
Chr4:68610351 [GRCh37]
Chr4:4q13.2
uncertain significance
NM_000406.3(GNRHR):c.430A>C (p.Thr144Pro) single nucleotide variant not provided [RCV001765168] Chr4:67753906 [GRCh38]
Chr4:68619624 [GRCh37]
Chr4:4q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4421 AgrOrtholog
COSMIC GNRHR COSMIC
Ensembl Genes ENSG00000109163 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000226413 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000397561 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000226413 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000420975 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000109163 GTEx
HGNC ID HGNC:4421 ENTREZGENE
Human Proteome Map GNRHR Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GphnRH_fam_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2798 UniProtKB/Swiss-Prot
NCBI Gene 2798 ENTREZGENE
OMIM 138850 OMIM
  146110 OMIM
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28800 PharmGKB
PRINTS GNADOTRPHINR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCRRHODOPSN 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 GNRHR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  V9GZJ6_HUMAN UniProtKB/TrEMBL
  V9GZN9_HUMAN UniProtKB/TrEMBL
UniProt Secondary O75793 UniProtKB/Swiss-Prot
  Q14D13 UniProtKB/Swiss-Prot
  Q92644 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 GNRHR  gonadotropin releasing hormone receptor    gonadotropin-releasing hormone receptor  Symbol and/or name change 5135510 APPROVED
2011-08-16 GNRHR  gonadotropin-releasing hormone receptor  GNRHR  gonadotropin-releasing hormone receptor  Symbol and/or name change 5135510 APPROVED