GNRH1 (gonadotropin releasing hormone 1) - Rat Genome Database

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Gene: GNRH1 (gonadotropin releasing hormone 1) Homo sapiens
Analyze
Symbol: GNRH1
Name: gonadotropin releasing hormone 1
RGD ID: 69083
HGNC Page HGNC:4419
Description: Predicted to enable gonadotropin hormone-releasing hormone activity and gonadotropin-releasing hormone receptor binding activity. Predicted to be involved in cell-cell signaling and signal transduction. Predicted to act upstream of or within several processes, including negative regulation of neuron migration; regulation of ovarian follicle development; and response to ethanol. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in breast cancer; hypogonadotropic hypogonadism 12 with or without anosmia; and periodontitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GNRH; GnRH-associated peptide 1; gonadotropin-releasing hormone 1; gonadotropin-releasing hormone 1 (leutinizing-releasing hormone); gonadotropin-releasing hormone 1 (luteinizing-releasing hormone); GRH; HH12; leuteinizing-releasing hormone; LHRH; LNRH; luliberin I; progonadoliberin I; progonadoliberin-1; prolactin release-inhibiting factor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38825,419,258 - 25,425,040 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl825,419,258 - 25,424,654 (-)EnsemblGRCh38hg38GRCh38
GRCh37825,276,774 - 25,282,556 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36825,332,691 - 25,338,473 (-)NCBINCBI36Build 36hg18NCBI36
Build 34825,332,692 - 25,337,836NCBI
Celera824,237,655 - 24,243,437 (-)NCBICelera
Cytogenetic Map8p21.2NCBI
HuRef823,821,751 - 23,827,534 (-)NCBIHuRef
CHM1_1825,478,220 - 25,484,032 (-)NCBICHM1_1
T2T-CHM13v2.0825,694,484 - 25,700,266 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
1H-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',4,5-tetrachlorobiphenyl  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3',5'-cyclic GMP  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
alfuzosin  (ISO)
allethrin  (ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
atrazine  (EXP,ISO)
benzo[a]pyrene  (ISO)
beta-hexachlorocyclohexane  (ISO)
bicuculline  (ISO)
bifenthrin  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (ISO)
calcium dichloride  (ISO)
carvone  (EXP)
chlormequat chloride  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clomiphene  (EXP)
cocaine  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
DDE  (EXP,ISO)
DDT  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (ISO)
dopamine  (ISO)
emamectin benzoate  (ISO)
Estradiol 17beta-cyclopentylpropionate  (ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
fulvestrant  (ISO)
gamma-aminobutyric acid  (ISO)
gamma-hexachlorocyclohexane  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glyphosate  (ISO)
haloperidol  (ISO)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
ketoconazole  (ISO)
KT 5823  (ISO)
lipopolysaccharide  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
melatonin  (ISO)
melittin  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methoxychlor  (ISO)
methylene blue  (ISO)
methylmercury chloride  (ISO)
muscimol  (ISO)
ochratoxin A  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
Phenoxybenzamine  (ISO)
phenylephrine  (ISO)
potassium chloride  (ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
procymidone  (ISO)
progesterone  (EXP)
propofol  (EXP)
pyrethrins  (ISO)
raloxifene  (EXP)
sevoflurane  (EXP)
T-2 toxin  (ISO)
tamoxifen  (EXP)
testosterone  (ISO)
Tetrachlorobisphenol A  (ISO)
tetrodotoxin  (ISO)
thioacetamide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
wortmannin  (ISO)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormality of body height  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the sense of smell  (IAGP)
Abnormality of the voice  (IAGP)
Absence of pubertal development  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Absent pubic hair  (IAGP)
Amenorrhea  (IAGP)
Anosmia  (IAGP)
Anxiety  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Breast hypoplasia  (IAGP)
Camptodactyly  (IAGP)
Cleft palate  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Cryptorchidism  (IAGP)
Decreased circulating gonadotropin concentration  (IAGP)
Decreased serum estradiol  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Eunuchoid habitus  (IAGP)
Female hypogonadism  (IAGP)
Generalized joint hypermobility  (IAGP)
Gingival bleeding  (IAGP)
Gynecomastia  (IAGP)
Hypertelorism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hypoplasia of the uterus  (IAGP)
Impotence  (IAGP)
Increased female libido  (IAGP)
Infertility  (IAGP)
Juvenile onset  (IAGP)
Male hypogonadism  (IAGP)
Micropenis  (IAGP)
Non-obstructive azoospermia  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Periapical bone loss  (IAGP)
Phenotypic abnormality  (IAGP)
Primary amenorrhea  (IAGP)
Secondary amenorrhea  (IAGP)
Sparse axillary hair  (IAGP)
Sparse body hair  (IAGP)
Sparse pubic hair  (IAGP)
Wide intermamillary distance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. Bouligand J, etal., N Engl J Med. 2009 Jun 25;360(26):2742-8. doi: 10.1056/NEJMoa0900136. Epub 2009 Jun 17.
2. GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Chan YM, etal., Proc Natl Acad Sci U S A. 2009 Jul 14;106(28):11703-8. doi: 10.1073/pnas.0903449106. Epub 2009 Jun 30.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism. Maione L, etal., PLoS One. 2013 Jul 25;8(7):e69616. doi: 10.1371/journal.pone.0069616. Print 2013.
5. The hypogonadal mouse: reproductive functions restored by gene therapy. Mason AJ, etal., Science. 1986 Dec 12;234(4782):1372-8.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Combining growth hormone-releasing hormone antagonist with luteinizing hormone-releasing hormone antagonist greatly augments benign prostatic hyperplasia shrinkage. Rick FG, etal., J Urol. 2012 Apr;187(4):1498-504. doi: 10.1016/j.juro.2011.11.081. Epub 2012 Feb 17.
14. Large-scale investigation of genomic markers for severe periodontitis. Suzuki A, etal., Odontology. 2004 Sep;92(1):43-7.
Additional References at PubMed
PMID:1310542   PMID:1682898   PMID:1767338   PMID:2671939   PMID:2863757   PMID:2867548   PMID:3511544   PMID:6090951   PMID:6760865   PMID:8145771   PMID:8529206   PMID:8692981  
PMID:8784072   PMID:8889548   PMID:9202214   PMID:9414473   PMID:9484912   PMID:10391209   PMID:10832105   PMID:11278902   PMID:11875100   PMID:12040003   PMID:12054733   PMID:12447356  
PMID:12477932   PMID:12633791   PMID:12770744   PMID:12788881   PMID:12969578   PMID:14565958   PMID:14594454   PMID:14726258   PMID:15001648   PMID:15062568   PMID:15138251   PMID:15229199  
PMID:15283968   PMID:15489334   PMID:15546906   PMID:15562029   PMID:15578334   PMID:15809743   PMID:16061872   PMID:16157590   PMID:16359986   PMID:16754659   PMID:17202595   PMID:17220347  
PMID:17456575   PMID:17557168   PMID:17605472   PMID:17680884   PMID:18463157   PMID:18467526   PMID:18477660   PMID:18959738   PMID:18959739   PMID:18980792   PMID:19064572   PMID:19086053  
PMID:19190109   PMID:19403562   PMID:19453261   PMID:19489874   PMID:19640273   PMID:19849976   PMID:20118984   PMID:20138117   PMID:20188792   PMID:20301509   PMID:20389089   PMID:20400076  
PMID:20424473   PMID:20484732   PMID:20529119   PMID:20634197   PMID:20727862   PMID:20727865   PMID:20734064   PMID:20807514   PMID:20887715   PMID:20951683   PMID:21368045   PMID:21646369  
PMID:21714833   PMID:21722705   PMID:21827674   PMID:21855365   PMID:21873635   PMID:22024993   PMID:22074952   PMID:22161498   PMID:23077052   PMID:23287110   PMID:23404564   PMID:23550003  
PMID:23550012   PMID:23648337   PMID:23735672   PMID:24002956   PMID:24010162   PMID:24056171   PMID:24095645   PMID:24264576   PMID:24472523   PMID:24603682   PMID:24722580   PMID:25248098  
PMID:25916694   PMID:25955300   PMID:26308290   PMID:26595427   PMID:26644469   PMID:26660506   PMID:26920257   PMID:27639272   PMID:27793127   PMID:28385888   PMID:28514442   PMID:33652606  
PMID:33961781   PMID:33964320   PMID:34104122   PMID:34923491   PMID:36446322   PMID:37261390   PMID:39010903  


Genomics

Comparative Map Data
GNRH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38825,419,258 - 25,425,040 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl825,419,258 - 25,424,654 (-)EnsemblGRCh38hg38GRCh38
GRCh37825,276,774 - 25,282,556 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36825,332,691 - 25,338,473 (-)NCBINCBI36Build 36hg18NCBI36
Build 34825,332,692 - 25,337,836NCBI
Celera824,237,655 - 24,243,437 (-)NCBICelera
Cytogenetic Map8p21.2NCBI
HuRef823,821,751 - 23,827,534 (-)NCBIHuRef
CHM1_1825,478,220 - 25,484,032 (-)NCBICHM1_1
T2T-CHM13v2.0825,694,484 - 25,700,266 (-)NCBIT2T-CHM13v2.0
Gnrh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391467,982,717 - 67,986,889 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1467,982,630 - 67,986,888 (+)EnsemblGRCm39 Ensembl
GRCm381467,745,181 - 67,749,440 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1467,745,181 - 67,749,439 (+)EnsemblGRCm38mm10GRCm38
MGSCv371468,363,286 - 68,367,493 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361466,699,676 - 66,702,621 (+)NCBIMGSCv36mm8
Celera1465,502,860 - 65,507,056 (+)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1434.66NCBI
Gnrh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81546,147,878 - 46,152,086 (+)NCBIGRCr8
mRatBN7.21541,972,482 - 41,976,690 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1541,942,339 - 41,976,690 (+)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl1541,972,905 - 41,973,581 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1543,837,145 - 43,841,353 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01544,987,366 - 44,991,574 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01543,432,699 - 43,436,907 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01544,441,856 - 44,446,064 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1544,441,856 - 44,446,064 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1544,442,555 - 44,442,875 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01547,151,131 - 47,155,339 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41547,303,309 - 47,307,517 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11547,319,088 - 47,323,286 (+)NCBI
Celera1541,636,731 - 41,640,939 (+)NCBICelera
Cytogenetic Map15p12NCBI
Gnrh1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540348,343,597 - 48,346,595 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540348,341,731 - 48,346,595 (-)NCBIChiLan1.0ChiLan1.0
GNRH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2743,960,415 - 43,967,332 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1819,674,806 - 19,680,584 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0824,700,268 - 24,707,332 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1821,609,407 - 21,616,521 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl821,609,407 - 21,615,936 (-)Ensemblpanpan1.1panPan2
GNRH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12532,038,631 - 32,043,192 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2532,039,613 - 32,043,028 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2532,623,319 - 32,627,816 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02532,237,978 - 32,242,489 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2532,238,905 - 32,242,478 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12532,193,651 - 32,198,162 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02532,043,144 - 32,047,652 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02532,208,954 - 32,213,456 (+)NCBIUU_Cfam_GSD_1.0
Gnrh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494310,029,435 - 10,033,174 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367571,282,185 - 1,285,832 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367571,282,185 - 1,285,804 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GNRH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl149,442,971 - 9,453,035 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1149,442,971 - 9,447,521 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21410,597,132 - 10,607,824 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GNRH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1823,543,717 - 23,550,728 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl823,542,806 - 23,547,771 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605218,616,776 - 18,623,795 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gnrh1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475820,447,583 - 20,450,968 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475820,447,413 - 20,451,059 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GNRH1
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001083111.2(GNRH1):c.18dup (p.Leu7fs) duplication Hypogonadotropic hypogonadism 12 with or without anosmia [RCV000030900] Chr8:25423312..25423313 [GRCh38]
Chr8:25280828..25280829 [GRCh37]
Chr8:8p21.2		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3 copy number gain See cases [RCV000052167] Chr8:23961808..25436108 [GRCh38]
Chr8:23819321..25293624 [GRCh37]
Chr8:23875266..25349541 [NCBI36]
Chr8:8p21.2		 uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
NM_001083111.2(GNRH1):c.87del (p.Leu30fs) deletion not provided [RCV000144705] Chr8:25423244 [GRCh38]
Chr8:25280760 [GRCh37]
Chr8:8p21.2		 uncertain significance|not provided
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 copy number loss See cases [RCV000138081] Chr8:25171103..31750600 [GRCh38]
Chr8:25028618..31608116 [GRCh37]
Chr8:25084535..31727658 [NCBI36]
Chr8:8p21.2-12		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
NM_001083111.2(GNRH1):c.47G>C (p.Trp16Ser) single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV000288329]|not provided [RCV000711848] Chr8:25423284 [GRCh38]
Chr8:25280800 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_001083111.2(GNRH1):c.237+8A>C single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV000328353]|not provided [RCV003727719] Chr8:25421565 [GRCh38]
Chr8:25279081 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_001083111.2(GNRH1):c.-1-29T>C single nucleotide variant Isolated GnRH Deficiency [RCV000352875] Chr8:25423360 [GRCh38]
Chr8:25280876 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_001083111.2(GNRH1):c.-2+388T>C single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV000400342]|not provided [RCV004705465] Chr8:25423813 [GRCh38]
Chr8:25281329 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_001083111.2(GNRH1):c.238-12T>C single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV000292033] Chr8:25419472 [GRCh38]
Chr8:25276988 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_001083111.2(GNRH1):c.177A>G (p.Gln59=) single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV000382951]|not provided [RCV000910936] Chr8:25421633 [GRCh38]
Chr8:25279149 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_001083111.2(GNRH1):c.-2+5A>C single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV000336141] Chr8:25424196 [GRCh38]
Chr8:25281712 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_001083111.2(GNRH1):c.-2+194C>A single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV000299783] Chr8:25424007 [GRCh38]
Chr8:25281523 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_000825.3(GNRH1):c.-1015dup duplication Isolated GnRH Deficiency [RCV000400073] Chr8:25424356..25424357 [GRCh38]
Chr8:25281872..25281873 [GRCh37]
Chr8:8p21.2		 likely benign
NM_001083111.2(GNRH1):c.-1-140G>A single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV000294346] Chr8:25423471 [GRCh38]
Chr8:25280987 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_000825.3(GNRH1):c.-1015del deletion Isolated GnRH Deficiency [RCV000305814] Chr8:25424357 [GRCh38]
Chr8:25281873 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_001083111.2(GNRH1):c.-1-148G>A single nucleotide variant Isolated GnRH Deficiency [RCV000349298] Chr8:25423479 [GRCh38]
Chr8:25280995 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_001083111.2(GNRH1):c.-1-110A>G single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV000394363] Chr8:25423441 [GRCh38]
Chr8:25280957 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p21.2(chr8:25276770-25315893)x1 copy number loss See cases [RCV000449385] Chr8:25276770..25315893 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12		 pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12		 not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p21.2(chr8:25165444-25587783)x3 copy number gain not provided [RCV000659217] Chr8:25165444..25587783 [GRCh37]
Chr8:8p21.2		 likely benign
GRCh37/hg19 8p21.2(chr8:24948124-26895609)x1 copy number loss not provided [RCV000683016] Chr8:24948124..26895609 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p21.2(chr8:24921077-25558294)x3 copy number gain not provided [RCV000682991] Chr8:24921077..25558294 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p21.2(chr8:25079824-25449705)x3 copy number gain not provided [RCV000747487] Chr8:25079824..25449705 [GRCh37]
Chr8:8p21.2		 benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_001083111.2(GNRH1):c.141+202A>G single nucleotide variant not provided [RCV001581870] Chr8:25422988 [GRCh38]
Chr8:25280504 [GRCh37]
Chr8:8p21.2		 likely benign
NM_001083111.2(GNRH1):c.183C>T (p.Phe61=) single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV001164541]|not provided [RCV000970679] Chr8:25421627 [GRCh38]
Chr8:25279143 [GRCh37]
Chr8:8p21.2		 benign
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001083111.2(GNRH1):c.210T>A (p.Ser70=) single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV001164540] Chr8:25421600 [GRCh38]
Chr8:25279116 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2		 pathogenic
NM_000825.3(GNRH1):c.-984C>G single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV001159619] Chr8:25424326 [GRCh38]
Chr8:25281842 [GRCh37]
Chr8:8p21.2		 uncertain significance
NC_000008.10:g.(?_25276935)_(25276996_?)del deletion not provided [RCV003105347] Chr8:25276935..25276996 [GRCh37]
Chr8:8p21.2		 uncertain significance
NC_000008.10:g.(?_24810323)_(25892142_?)dup duplication not provided [RCV003105348] Chr8:24810323..25892142 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_001083111.2(GNRH1):c.141+281A>G single nucleotide variant not provided [RCV001544838] Chr8:25422909 [GRCh38]
Chr8:25280425 [GRCh37]
Chr8:8p21.2		 likely benign
NM_001083111.2(GNRH1):c.141+40T>G single nucleotide variant not provided [RCV001614635] Chr8:25423150 [GRCh38]
Chr8:25280666 [GRCh37]
Chr8:8p21.2		 benign
NM_001083111.2(GNRH1):c.238G>C (p.Glu80Gln) single nucleotide variant not provided [RCV000953141] Chr8:25419460 [GRCh38]
Chr8:25276976 [GRCh37]
Chr8:8p21.2		 benign
NM_001083111.2(GNRH1):c.141G>C (p.Glu47Asp) single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV001164542]|not provided [RCV000910439] Chr8:25423190 [GRCh38]
Chr8:25280706 [GRCh37]
Chr8:8p21.2		 benign|likely benign|uncertain significance
GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1 copy number loss not provided [RCV001006090] Chr8:24305969..28673405 [GRCh37]
Chr8:8p21.2-21.1		 pathogenic
NM_001083111.2(GNRH1):c.238-179dup duplication not provided [RCV001570249] Chr8:25419625..25419626 [GRCh38]
Chr8:25277141..25277142 [GRCh37]
Chr8:8p21.2		 likely benign
NC_000008.11:g.25419218C>T single nucleotide variant not provided [RCV001558814] Chr8:25419218 [GRCh38]
Chr8:25276734 [GRCh37]
Chr8:8p21.2		 likely benign
NM_001083111.2(GNRH1):c.141+85A>G single nucleotide variant not provided [RCV001653300] Chr8:25423105 [GRCh38]
Chr8:25280621 [GRCh37]
Chr8:8p21.2		 benign
NM_000825.3(GNRH1):c.-1316C>T single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV001161004] Chr8:25424658 [GRCh38]
Chr8:25282174 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_000825.3(GNRH1):c.-1198G>A single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV001159620] Chr8:25424540 [GRCh38]
Chr8:25282056 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_001083111.2(GNRH1):c.-2+59G>T single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV001159618] Chr8:25424142 [GRCh38]
Chr8:25281658 [GRCh37]
Chr8:8p21.2		 uncertain significance
NC_000008.11:g.25425333A>G single nucleotide variant not provided [RCV001670134] Chr8:25425333 [GRCh38]
Chr8:25282849 [GRCh37]
Chr8:8p21.2		 benign
NC_000008.11:g.25425076T>C single nucleotide variant not provided [RCV001611933] Chr8:25425076 [GRCh38]
Chr8:25282592 [GRCh37]
Chr8:8p21.2		 benign
NC_000008.11:g.25425267dup duplication not provided [RCV001583263] Chr8:25425266..25425267 [GRCh38]
Chr8:25282782..25282783 [GRCh37]
Chr8:8p21.2		 likely benign
NM_000825.3(GNRH1):c.-1624G>A single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV001161005] Chr8:25424966 [GRCh38]
Chr8:25282482 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_001083111.2(GNRH1):c.178C>T (p.Arg60Cys) single nucleotide variant not provided [RCV001914658] Chr8:25421632 [GRCh38]
Chr8:25279148 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_001083111.2(GNRH1):c.60dup (p.Cys21fs) duplication not provided [RCV001908290] Chr8:25423270..25423271 [GRCh38]
Chr8:25280786..25280787 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_001083111.2(GNRH1):c.143T>G (p.Ile48Arg) single nucleotide variant Amenorrhea [RCV001849750] Chr8:25421667 [GRCh38]
Chr8:25279183 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_001083111.2(GNRH1):c.270G>T (p.Lys90Asn) single nucleotide variant not provided [RCV001900283] Chr8:25419428 [GRCh38]
Chr8:25276944 [GRCh37]
Chr8:8p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001083111.2(GNRH1):c.92G>A (p.Arg31His) single nucleotide variant Hypogonadotropic hypogonadism 12 with or without anosmia [RCV003989137]|not provided [RCV002035456] Chr8:25423239 [GRCh38]
Chr8:25280755 [GRCh37]
Chr8:8p21.2		 pathogenic|likely pathogenic
NM_001083111.2(GNRH1):c.63C>T (p.Cys21=) single nucleotide variant not provided [RCV002147714] Chr8:25423268 [GRCh38]
Chr8:25280784 [GRCh37]
Chr8:8p21.2		 likely benign
NC_000008.10:g.(?_24810323)_(25892142_?)del deletion Charcot-Marie-Tooth disease type 2E [RCV003116533] Chr8:24810323..25892142 [GRCh37]
Chr8:8p21.2		 pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 copy number gain not provided [RCV002279745] Chr8:19779604..26531980 [GRCh37]
Chr8:8p21.3-21.2		 pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p21.2(chr8:25232694-25511821)x3 copy number gain not provided [RCV002475867] Chr8:25232694..25511821 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_001083111.2(GNRH1):c.73C>G (p.His25Asp) single nucleotide variant not provided [RCV002820040] Chr8:25423258 [GRCh38]
Chr8:25280774 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_001083111.2(GNRH1):c.194C>T (p.Thr65Met) single nucleotide variant not provided [RCV002976202] Chr8:25421616 [GRCh38]
Chr8:25279132 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1 copy number loss not provided [RCV003223292] Chr8:21925038..26372195 [GRCh37]
Chr8:8p21.3-21.2		 likely pathogenic
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23		 pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1		 pathogenic
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
NM_001083111.2(GNRH1):c.91C>T (p.Arg31Cys) single nucleotide variant not provided [RCV003557387] Chr8:25423240 [GRCh38]
Chr8:25280756 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_001083111.2(GNRH1):c.52G>A (p.Val18Met) single nucleotide variant not provided [RCV003557388] Chr8:25423279 [GRCh38]
Chr8:25280795 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1 copy number loss not specified [RCV003986748] Chr8:23754939..30219110 [GRCh37]
Chr8:8p21.2-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p21.2(chr8:25077825-25337736)x3 copy number gain not specified [RCV003986750] Chr8:25077825..25337736 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1		 pathogenic
NM_001083111.2(GNRH1):c.86G>A (p.Gly29Glu) single nucleotide variant not provided [RCV003675892] Chr8:25423245 [GRCh38]
Chr8:25280761 [GRCh37]
Chr8:8p21.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:132
Count of miRNA genes:61
Interacting mature miRNAs:62
Transcripts:ENST00000276414, ENST00000421054
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
407160544GWAS809520_Hage at menopause QTL GWAS809520 (human)4e-12age at menopause82542328425423285Human
407160275GWAS809251_Hheel bone mineral density QTL GWAS809251 (human)2e-15heel bone mineral densitybone mineral density (CMO:0001226)82542328425423285Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human
406998155GWAS647131_Hreticulocyte measurement QTL GWAS647131 (human)3e-12reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)82542099325420994Human
407160767GWAS809743_Hage at menopause QTL GWAS809743 (human)3e-13age at menopause82542328425423285Human

Markers in Region
SHGC-31262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37825,276,800 - 25,276,949UniSTSGRCh37
Build 36825,332,717 - 25,332,866RGDNCBI36
Celera824,237,681 - 24,237,830RGD
Cytogenetic Map8p21-p11.2UniSTS
HuRef823,821,777 - 23,821,926UniSTS
Stanford-G3 RH Map81127.0UniSTS
GeneMap99-GB4 RH Map8102.14UniSTS
Whitehead-RH Map8104.5UniSTS
NCBI RH Map8339.8UniSTS
GeneMap99-G3 RH Map81217.0UniSTS
GDB:181593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37825,276,801 - 25,276,936UniSTSGRCh37
Build 36825,332,718 - 25,332,853RGDNCBI36
Celera824,237,682 - 24,237,817RGD
Cytogenetic Map8p21-p11.2UniSTS
HuRef823,821,778 - 23,821,913UniSTS
D8S1916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37825,276,802 - 25,276,927UniSTSGRCh37
Build 36825,332,719 - 25,332,844RGDNCBI36
Celera824,237,683 - 24,237,808RGD
Cytogenetic Map8p21-p11.2UniSTS
HuRef823,821,779 - 23,821,904UniSTS
TNG Radiation Hybrid Map813363.0UniSTS
Stanford-G3 RH Map81140.0UniSTS
NCBI RH Map8339.8UniSTS
GeneMap99-G3 RH Map81230.0UniSTS
WI-18854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37825,276,780 - 25,276,884UniSTSGRCh37
Build 36825,332,697 - 25,332,801RGDNCBI36
Celera824,237,661 - 24,237,765RGD
Cytogenetic Map8p21-p11.2UniSTS
HuRef823,821,757 - 23,821,861UniSTS
GeneMap99-GB4 RH Map8102.14UniSTS
Whitehead-RH Map8104.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2244 4950 1720 2338 4 618 1943 460 2268 7272 6450 52 3716 846 1730 1609 170

Sequence


Ensembl Acc Id: ENST00000276414   ⟹   ENSP00000276414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl825,419,262 - 25,424,654 (-)Ensembl
Ensembl Acc Id: ENST00000421054   ⟹   ENSP00000391280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl825,419,258 - 25,424,261 (-)Ensembl
RefSeq Acc Id: NM_000825   ⟹   NP_000816
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38825,419,258 - 25,425,040 (-)NCBI
GRCh37825,276,774 - 25,282,556 (-)ENTREZGENE
Build 36825,332,691 - 25,338,473 (-)NCBI Archive
HuRef823,821,751 - 23,827,534 (-)ENTREZGENE
CHM1_1825,478,220 - 25,484,032 (-)NCBI
T2T-CHM13v2.0825,694,484 - 25,700,266 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001083111   ⟹   NP_001076580
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38825,419,258 - 25,424,261 (-)NCBI
GRCh37825,276,774 - 25,282,556 (-)ENTREZGENE
Build 36825,332,691 - 25,338,473 (-)NCBI Archive
HuRef823,821,751 - 23,827,534 (-)ENTREZGENE
CHM1_1825,478,220 - 25,484,032 (-)NCBI
T2T-CHM13v2.0825,694,484 - 25,699,487 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001076580   ⟸   NM_001083111
- Peptide Label: isoform 2 preproprotein
- UniProtKB: A0AVP0 (UniProtKB/Swiss-Prot),   P01148 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000816   ⟸   NM_000825
- Peptide Label: isoform 1 precursor
- Sequence:
Ensembl Acc Id: ENSP00000276414   ⟸   ENST00000276414
Ensembl Acc Id: ENSP00000391280   ⟸   ENST00000421054

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01148-F1-model_v2 AlphaFold P01148 1-92 view protein structure

Promoters
RGD ID:7212905
Promoter ID:EPDNEW_H12199
Type:initiation region
Name:GNRH1_1
Description:gonadotropin releasing hormone 1
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
GRCh38825,424,261 - 25,424,321EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4419 AgrOrtholog
COSMIC GNRH1 COSMIC
Ensembl Genes ENSG00000147437 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000276414 ENTREZGENE
  ENST00000276414.4 UniProtKB/Swiss-Prot
  ENST00000421054 ENTREZGENE
  ENST00000421054.7 UniProtKB/Swiss-Prot
GTEx ENSG00000147437 GTEx
HGNC ID HGNC:4419 ENTREZGENE
Human Proteome Map GNRH1 Human Proteome Map
InterPro GnRH UniProtKB/Swiss-Prot
  Gonadoliberin UniProtKB/Swiss-Prot
  Gonadoliberin_I_precursor UniProtKB/Swiss-Prot
KEGG Report hsa:2796 UniProtKB/Swiss-Prot
NCBI Gene 2796 ENTREZGENE
OMIM 152760 OMIM
PANTHER PROGONADOLIBERIN-1 UniProtKB/Swiss-Prot
  PTHR10522 UniProtKB/Swiss-Prot
Pfam GnRH UniProtKB/Swiss-Prot
PharmGKB PA28798 PharmGKB
PRINTS GONADOLIBRNI UniProtKB/Swiss-Prot
PROSITE GNRH UniProtKB/Swiss-Prot
UniProt A0AVP0 ENTREZGENE
  GON1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0AVP0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 GNRH1  gonadotropin releasing hormone 1    gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)  Symbol and/or name change 5135510 APPROVED