GHRHR (growth hormone releasing hormone receptor) - Rat Genome Database

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Gene: GHRHR (growth hormone releasing hormone receptor) Homo sapiens
Analyze
Symbol: GHRHR
Name: growth hormone releasing hormone receptor
RGD ID: 734452
HGNC Page HGNC:4266
Description: Enables growth factor binding activity; growth hormone-releasing hormone receptor activity; and peptide hormone binding activity. Involved in several processes, including adenylate cyclase-activating G protein-coupled receptor signaling pathway; response to estrogen; and response to insulin. Located in several cellular components, including nuclear matrix; nuclear membrane; and secretory granule. Implicated in isolated growth hormone deficiency and isolated growth hormone deficiency type IB.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GHRFR; GHRH receptor; GHRHRpsv; GRF receptor; GRFR; growth hormone releasing hormone receptor variant 1; growth hormone releasing hormone receptor variant 2; growth hormone releasing hormone receptor variant 3; growth hormone releasing hormone receptor variant 4; growth hormone-releasing hormone receptor; IGHD1B; IGHD4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38730,963,953 - 30,979,528 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl730,938,669 - 30,993,254 (+)EnsemblGRCh38hg38GRCh38
GRCh37731,003,568 - 31,019,143 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36730,970,161 - 30,985,668 (+)NCBINCBI36Build 36hg18NCBI36
Build 34730,776,875 - 30,788,828NCBI
Celera730,992,840 - 31,008,351 (+)NCBICelera
Cytogenetic Map7p14.3NCBI
HuRef730,885,854 - 30,901,378 (+)NCBIHuRef
CHM1_1731,003,564 - 31,019,092 (+)NCBICHM1_1
T2T-CHM13v2.0731,101,596 - 31,117,172 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2731,053,140 - 31,068,651 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Effects of a high-glucose environment on the pituitary growth hormone-releasing hormone receptor: type 1 diabetes compared with in vitro glucotoxicity. Bedard K, etal., Am J Physiol Endocrinol Metab. 2008 Apr;294(4):E740-51. doi: 10.1152/ajpendo.00141.2007. Epub 2008 Feb 19.
2. Isolated GH deficiency due to a GHRH receptor mutation causes hip joint problems and genu valgum, and reduces size but not density of trabecular and mixed bone. Epitacio-Pereira CC, etal., J Clin Endocrinol Metab. 2013 Nov;98(11):E1710-5. doi: 10.1210/jc.2013-2349. Epub 2013 Sep 20.
3. Sleep loss alters hypothalamic growth hormone-releasing hormone receptors in rats. Gardi J, etal., Neurosci Lett 2002 Aug 23;329(1):69-72.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. A germ line mutation that delays prostate cancer progression and prolongs survival in a murine prostate cancer model. Majeed N, etal., Oncogene. 2005 Jul 7;24(29):4736-40.
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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Role of growth hormone-releasing hormone in sleep and growth impairments induced by upper airway obstruction in rats. Tarasiuk A, etal., Eur Respir J. 2011 Oct;38(4):870-7. Epub 2011 Mar 15.
12. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Wajnrajch MP, etal., Nat Genet. 1996 Jan;12(1):88-90.
13. Functional GHRH receptor carboxyl terminal isoforms in normal and dwarf (dw) rats. Zeitler P, etal., J Mol Endocrinol. 1998 Dec;21(3):363-71.
Additional References at PubMed
PMID:1333056   PMID:7559877   PMID:7629234   PMID:7680413   PMID:8188233   PMID:9467553   PMID:9482665   PMID:9814493   PMID:10084571   PMID:10429879   PMID:10461027   PMID:10537133  
PMID:10962031   PMID:11232012   PMID:11773624   PMID:11875102   PMID:12036966   PMID:12126741   PMID:12220726   PMID:12220735   PMID:12364462   PMID:12424433   PMID:12444890   PMID:12534354  
PMID:12606621   PMID:12656663   PMID:12690205   PMID:12794696   PMID:12853948   PMID:12867592   PMID:15362970   PMID:15944917   PMID:16214911   PMID:16284391   PMID:16344560   PMID:16606630  
PMID:16820890   PMID:17356054   PMID:17546465   PMID:18034778   PMID:18240029   PMID:18255167   PMID:18577758   PMID:18629632   PMID:18785993   PMID:19029774   PMID:19086053   PMID:19209235  
PMID:19453261   PMID:19487270   PMID:19524226   PMID:19567534   PMID:19622623   PMID:19640273   PMID:19733620   PMID:19897610   PMID:19913121   PMID:19965916   PMID:20374725   PMID:20424473  
PMID:20453000   PMID:20628086   PMID:20634197   PMID:20734064   PMID:20810604   PMID:20819778   PMID:21044116   PMID:21816782   PMID:21873635   PMID:21995288   PMID:22160161   PMID:22489751  
PMID:23052699   PMID:23602557   PMID:23789946   PMID:24479854   PMID:25153028   PMID:25541890   PMID:25752763   PMID:25761575   PMID:26535981   PMID:26917260   PMID:27031974   PMID:27114065  
PMID:27501283   PMID:28525353   PMID:28768959   PMID:28910730   PMID:29277338   PMID:29895126   PMID:29991678   PMID:30390533   PMID:30831084   PMID:31231873   PMID:31902114   PMID:32123064  
PMID:32935264   PMID:33060564   PMID:34599099   PMID:35566020   PMID:37948564  


Genomics

Comparative Map Data
GHRHR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38730,963,953 - 30,979,528 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl730,938,669 - 30,993,254 (+)EnsemblGRCh38hg38GRCh38
GRCh37731,003,568 - 31,019,143 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36730,970,161 - 30,985,668 (+)NCBINCBI36Build 36hg18NCBI36
Build 34730,776,875 - 30,788,828NCBI
Celera730,992,840 - 31,008,351 (+)NCBICelera
Cytogenetic Map7p14.3NCBI
HuRef730,885,854 - 30,901,378 (+)NCBIHuRef
CHM1_1731,003,564 - 31,019,092 (+)NCBICHM1_1
T2T-CHM13v2.0731,101,596 - 31,117,172 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2731,053,140 - 31,068,651 (+)NCBI
Ghrhr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39655,353,204 - 55,365,515 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl655,353,280 - 55,365,515 (+)EnsemblGRCm39 Ensembl
GRCm38655,376,295 - 55,388,530 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl655,376,295 - 55,388,530 (+)EnsemblGRCm38mm10GRCm38
MGSCv37655,326,289 - 55,338,524 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36655,305,940 - 55,317,897 (+)NCBIMGSCv36mm8
Celera655,910,067 - 55,922,286 (+)NCBICelera
Cytogenetic Map6B3NCBI
cM Map627.38NCBI
Ghrhr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8485,830,345 - 85,863,127 (+)NCBIGRCr8
mRatBN7.2484,498,159 - 84,532,851 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl484,500,212 - 84,532,776 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx489,718,589 - 89,754,998 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0485,493,999 - 85,530,402 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0483,899,789 - 83,936,121 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0485,587,321 - 85,602,389 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl485,588,595 - 85,601,666 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04150,221,064 - 150,253,706 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4484,135,530 - 84,148,503 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1484,421,996 - 84,434,974 (+)NCBI
Celera479,386,911 - 79,400,313 (+)NCBICelera
Cytogenetic Map4q24NCBI
Ghrhr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541032,102,367 - 32,115,080 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541032,084,210 - 32,114,844 (+)NCBIChiLan1.0ChiLan1.0
GHRHR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2635,775,238 - 35,790,875 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1784,099,966 - 84,115,603 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0731,582,134 - 31,592,914 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1731,701,641 - 31,712,200 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl731,696,914 - 31,712,200 (+)Ensemblpanpan1.1panPan2
GHRHR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11443,626,862 - 43,638,737 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1443,626,845 - 43,638,753 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1443,059,230 - 43,070,721 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01443,567,602 - 43,579,114 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1443,567,473 - 43,579,402 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11443,683,226 - 43,694,708 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01443,359,784 - 43,371,271 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01443,721,032 - 43,732,545 (+)NCBIUU_Cfam_GSD_1.0
Ghrhr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511887,980,695 - 87,991,200 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364787,188,826 - 7,201,932 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364787,188,826 - 7,202,854 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GHRHR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1842,030,510 - 42,046,184 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11842,030,505 - 42,046,178 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21846,427,131 - 46,436,821 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GHRHR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12127,402,765 - 27,417,536 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2127,404,886 - 27,417,521 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604277,286,895 - 77,301,754 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ghrhr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624783200,940 - 214,373 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624783200,935 - 214,453 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GHRHR
232 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000823.4(GHRHR):c.57+1G>A single nucleotide variant Isolated growth hormone deficiency, type 4 [RCV000017361]|not provided [RCV001568303] Chr7:30964126 [GRCh38]
Chr7:31003741 [GRCh37]
Chr7:7p14.3		 pathogenic
NC_000007.14:g.30963945A>C single nucleotide variant Isolated growth hormone deficiency, type 4 [RCV000017366] Chr7:30963945 [GRCh38]
Chr7:31003560 [GRCh37]
Chr7:7p14.3		 pathogenic
NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter) single nucleotide variant Isolated growth hormone deficiency, type 4 [RCV000017360]|not provided [RCV001851885] Chr7:30969116 [GRCh38]
Chr7:31008731 [GRCh37]
Chr7:7p14.3		 pathogenic
NM_000823.4(GHRHR):c.431T>A (p.Leu144His) single nucleotide variant Isolated growth hormone deficiency, type 4 [RCV000017362]|not provided [RCV001851886] Chr7:30971183 [GRCh38]
Chr7:31010798 [GRCh37]
Chr7:7p14.3		 pathogenic
NM_000823.4(GHRHR):c.725T>G (p.Phe242Cys) single nucleotide variant Isolated growth hormone deficiency, type 4 [RCV000017363] Chr7:30974112 [GRCh38]
Chr7:31013727 [GRCh37]
Chr7:7p14.3		 pathogenic
NM_000823.4(GHRHR):c.665C>A (p.Ala222Glu) single nucleotide variant Isolated growth hormone deficiency, type 4 [RCV000017364] Chr7:30974052 [GRCh38]
Chr7:31013667 [GRCh37]
Chr7:7p14.3		 pathogenic
NM_000823.4(GHRHR):c.985A>G (p.Lys329Glu) single nucleotide variant Isolated growth hormone deficiency, type 4 [RCV000017365] Chr7:30976439 [GRCh38]
Chr7:31016054 [GRCh37]
Chr7:7p14.3		 pathogenic
NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr) single nucleotide variant GHRHR-related condition [RCV003974858]|Idiopathic growth hormone deficiency [RCV000029936]|Isolated growth hormone deficiency type IB [RCV000328423]|not provided [RCV001596943]|not specified [RCV000177091] Chr7:30969071 [GRCh38]
Chr7:31008686 [GRCh37]
Chr7:7p14.3		 benign|likely benign
NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp) single nucleotide variant GHRHR-related condition [RCV003974859]|Idiopathic growth hormone deficiency [RCV000029937]|Isolated growth hormone deficiency type IB [RCV000288787]|not provided [RCV001711087] Chr7:30969961 [GRCh38]
Chr7:31009576 [GRCh37]
Chr7:7p14.3		 benign|likely benign
NM_000823.4(GHRHR):c.366+13T>G single nucleotide variant Idiopathic growth hormone deficiency [RCV000029938]|Isolated growth hormone deficiency type IB [RCV000343715]|not provided [RCV001618218] Chr7:30969977 [GRCh38]
Chr7:31009592 [GRCh37]
Chr7:7p14.3		 benign|likely benign
NM_000823.4(GHRHR):c.564C>T (p.His188=) single nucleotide variant Idiopathic growth hormone deficiency [RCV000029939]|Isolated growth hormone deficiency type IB [RCV000349115]|not provided [RCV001650847] Chr7:30972062 [GRCh38]
Chr7:31011677 [GRCh37]
Chr7:7p14.3		 benign|likely benign
NC_000007.14:g.30959635_30967328delinsAGAGATCCA indel Isolated growth hormone deficiency type IB [RCV000050247] Chr7:30959635..30967328 [GRCh38]
Chr7:30999250..31006943 [GRCh37]
Chr7:7p14.3		 pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3 copy number gain See cases [RCV000051178] Chr7:30420933..34560665 [GRCh38]
Chr7:30460549..34600277 [GRCh37]
Chr7:30427074..34566802 [NCBI36]
Chr7:7p14.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
NM_000823.3(GHRHR):c.895C>T (p.Leu299Phe) single nucleotide variant Malignant melanoma [RCV000067844] Chr7:30975789 [GRCh38]
Chr7:31015404 [GRCh37]
Chr7:30981929 [NCBI36]
Chr7:7p14.3		 not provided
NM_000823.4(GHRHR):c.458C>A (p.Ala153Asp) single nucleotide variant not provided [RCV000171528] Chr7:30971210 [GRCh38]
Chr7:31010825 [GRCh37]
Chr7:7p14.3		 likely pathogenic
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln) single nucleotide variant Isolated growth hormone deficiency type IB [RCV000148941] Chr7:30969879 [GRCh38]
Chr7:31009494 [GRCh37]
Chr7:7p14.3		 likely pathogenic
NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro) single nucleotide variant Isolated growth hormone deficiency type IB [RCV000148940] Chr7:30971170 [GRCh38]
Chr7:31010785 [GRCh37]
Chr7:7p14.3		 likely pathogenic
NM_000823.4(GHRHR):c.495C>A (p.His165Gln) single nucleotide variant Isolated growth hormone deficiency type IB [RCV000148942] Chr7:30971993 [GRCh38]
Chr7:31011608 [GRCh37]
Chr7:7p14.3		 likely pathogenic
NM_000823.4(GHRHR):c.673G>A (p.Val225Ile) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001164932]|not provided [RCV000971540]|not specified [RCV000179787] Chr7:30974060 [GRCh38]
Chr7:31013675 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.885G>T (p.Val295=) single nucleotide variant not provided [RCV000173713] Chr7:30975779 [GRCh38]
Chr7:31015394 [GRCh37]
Chr7:7p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000823.4(GHRHR):c.1049A>G (p.Asp350Gly) single nucleotide variant not provided [RCV000174018] Chr7:30976503 [GRCh38]
Chr7:31016118 [GRCh37]
Chr7:7p14.3		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3		 pathogenic
GRCh38/hg38 7p14.3(chr7:30621519-31115117)x3 copy number gain See cases [RCV000139419] Chr7:30621519..31115117 [GRCh38]
Chr7:30661135..31154731 [GRCh37]
Chr7:30627660..31121256 [NCBI36]
Chr7:7p14.3		 uncertain significance
GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1 copy number loss See cases [RCV000141441] Chr7:30938370..33400996 [GRCh38]
Chr7:30977985..33440608 [GRCh37]
Chr7:30944510..33407133 [NCBI36]
Chr7:7p14.3		 likely pathogenic
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001161315]|not provided [RCV000179344] Chr7:30971987 [GRCh38]
Chr7:31011602 [GRCh37]
Chr7:7p14.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 copy number loss See cases [RCV000240125] Chr7:22935369..32621975 [GRCh37]
Chr7:7p15.3-14.3		 pathogenic
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser) single nucleotide variant Isolated growth hormone deficiency type IB [RCV000294743]|not provided [RCV000725955] Chr7:30972010 [GRCh38]
Chr7:31011625 [GRCh37]
Chr7:7p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000823.4(GHRHR):c.1089_1093del (p.Leu364fs) deletion not provided [RCV000255468] Chr7:30976541..30976545 [GRCh38]
Chr7:31016156..31016160 [GRCh37]
Chr7:7p14.3		 pathogenic
NM_000823.4(GHRHR):c.741C>T (p.Leu247=) single nucleotide variant GHRHR-related condition [RCV003977769]|Isolated growth hormone deficiency type IB [RCV000336191]|not provided [RCV001516450]|not specified [RCV000316884] Chr7:30974128 [GRCh38]
Chr7:31013743 [GRCh37]
Chr7:7p14.3		 benign|uncertain significance
NM_000823.4(GHRHR):c.*236C>A single nucleotide variant Isolated growth hormone deficiency type IB [RCV000277982] Chr7:30979480 [GRCh38]
Chr7:31019095 [GRCh37]
Chr7:7p14.3		 likely benign|uncertain significance
NM_000823.4(GHRHR):c.1265T>C (p.Met422Thr) single nucleotide variant Isolated growth hormone deficiency type IB [RCV000302610]|not provided [RCV001636990]|not specified [RCV000733663] Chr7:30979237 [GRCh38]
Chr7:31018852 [GRCh37]
Chr7:7p14.3		 benign|likely benign
NM_000823.4(GHRHR):c.-45C>T single nucleotide variant Isolated growth hormone deficiency type IB [RCV000323001]|not provided [RCV001662335] Chr7:30964024 [GRCh38]
Chr7:31003639 [GRCh37]
Chr7:7p14.3		 benign|likely benign
NM_000823.4(GHRHR):c.812C>T (p.Ala271Val) single nucleotide variant Isolated growth hormone deficiency type IB [RCV000396811] Chr7:30974489 [GRCh38]
Chr7:31014104 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.*147A>C single nucleotide variant Isolated growth hormone deficiency type IB [RCV000272101] Chr7:30979391 [GRCh38]
Chr7:31019006 [GRCh37]
Chr7:7p14.3		 likely benign|uncertain significance
NM_000823.4(GHRHR):c.29T>G (p.Val10Gly) single nucleotide variant Isolated growth hormone deficiency type IB [RCV000377318]|not provided [RCV001795994]|not specified [RCV003479107] Chr7:30964097 [GRCh38]
Chr7:31003712 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.812+12C>T single nucleotide variant Isolated growth hormone deficiency type IB [RCV000305774]|not provided [RCV002058662] Chr7:30974501 [GRCh38]
Chr7:31014116 [GRCh37]
Chr7:7p14.3		 likely benign|uncertain significance
NM_000823.4(GHRHR):c.*221T>C single nucleotide variant Isolated growth hormone deficiency type IB [RCV000381561]|not provided [RCV001653724] Chr7:30979465 [GRCh38]
Chr7:31019080 [GRCh37]
Chr7:7p14.3		 benign|likely benign
NM_000823.4(GHRHR):c.598-10T>C single nucleotide variant GHRHR-related condition [RCV003972515]|Isolated growth hormone deficiency type IB [RCV000404094]|not provided [RCV001613198] Chr7:30973975 [GRCh38]
Chr7:31013590 [GRCh37]
Chr7:7p14.3		 benign|likely benign
NM_000823.4(GHRHR):c.208T>G (p.Ser70Ala) single nucleotide variant Isolated growth hormone deficiency type IB [RCV000383026] Chr7:30969110 [GRCh38]
Chr7:31008725 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.485A>T (p.Asn162Ile) single nucleotide variant Isolated congenital growth hormone deficiency [RCV000404933] Chr7:30971983 [GRCh38]
Chr7:31011598 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.875C>G (p.Ser292Trp) single nucleotide variant Isolated growth hormone deficiency type IB [RCV000360402] Chr7:30975033 [GRCh38]
Chr7:31014648 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.914G>A (p.Arg305His) single nucleotide variant Isolated growth hormone deficiency type IB [RCV000265787]|not provided [RCV001850915] Chr7:30975808 [GRCh38]
Chr7:31015423 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.57+1G>T single nucleotide variant Isolated growth hormone deficiency type IB [RCV000282841] Chr7:30964126 [GRCh38]
Chr7:31003741 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.640A>G (p.Met214Val) single nucleotide variant Isolated growth hormone deficiency type IB [RCV000299968] Chr7:30974027 [GRCh38]
Chr7:31013642 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.*51C>T single nucleotide variant Isolated growth hormone deficiency type IB [RCV000366616] Chr7:30979295 [GRCh38]
Chr7:31018910 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.484A>G (p.Asn162Asp) single nucleotide variant not provided [RCV000280452] Chr7:30971982 [GRCh38]
Chr7:31011597 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.57C>T (p.Thr19=) single nucleotide variant not provided [RCV000317901] Chr7:30964125 [GRCh38]
Chr7:31003740 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1007C>T (p.Pro336Leu) single nucleotide variant not provided [RCV000489482] Chr7:30976461 [GRCh38]
Chr7:31016076 [GRCh37]
Chr7:7p14.3		 likely pathogenic|uncertain significance
NM_000823.4(GHRHR):c.*198C>A single nucleotide variant Isolated growth hormone deficiency type IB [RCV000327183] Chr7:30979442 [GRCh38]
Chr7:31019057 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.550G>C (p.Ala184Pro) single nucleotide variant not provided [RCV000592957] Chr7:30972048 [GRCh38]
Chr7:31011663 [GRCh37]
Chr7:7p14.3		 uncertain significance
NC_000007.14:g.31008681G>T single nucleotide variant Isolated growth hormone deficiency type IB [RCV000768416] Chr7:31008681 [GRCh38]
Chr7:31048296 [GRCh37]
Chr7:7p14.3		 pathogenic
NM_000823.4(GHRHR):c.660G>A (p.Leu220=) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001162869]|not provided [RCV002067149]|not specified [RCV000733292] Chr7:30974047 [GRCh38]
Chr7:31013662 [GRCh37]
Chr7:7p14.3		 benign|uncertain significance
NM_000823.4(GHRHR):c.194G>A (p.Trp65Ter) single nucleotide variant not provided [RCV000733373] Chr7:30969096 [GRCh38]
Chr7:31008711 [GRCh37]
Chr7:7p14.3		 pathogenic
NM_000823.4(GHRHR):c.138G>A (p.Glu46=) single nucleotide variant not provided [RCV000734681] Chr7:30968914 [GRCh38]
Chr7:31008529 [GRCh37]
Chr7:7p14.3		 conflicting interpretations of pathogenicity|uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000823.4(GHRHR):c.230C>T (p.Pro77Leu) single nucleotide variant not provided [RCV000433908] Chr7:30969132 [GRCh38]
Chr7:31008747 [GRCh37]
Chr7:7p14.3		 uncertain significance
GRCh37/hg19 7p14.3(chr7:30673441-31154672)x3 copy number gain See cases [RCV000447844] Chr7:30673441..31154672 [GRCh37]
Chr7:7p14.3		 uncertain significance
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000823.4(GHRHR):c.870C>T (p.Val290=) single nucleotide variant not provided [RCV000597629] Chr7:30975028 [GRCh38]
Chr7:31014643 [GRCh37]
Chr7:7p14.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3 copy number gain not provided [RCV000682909] Chr7:30463886..43470805 [GRCh37]
Chr7:7p14.3-13		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p14.3(chr7:30655542-31164655)x4 copy number gain not provided [RCV000746592] Chr7:30655542..31164655 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.813-137T>C single nucleotide variant not provided [RCV001692965] Chr7:30974834 [GRCh38]
Chr7:31014449 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.760G>A (p.Val254Met) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001164935] Chr7:30974437 [GRCh38]
Chr7:31014052 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.465-93A>G single nucleotide variant not provided [RCV001648947] Chr7:30971870 [GRCh38]
Chr7:31011485 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.975-6C>A single nucleotide variant GHRHR-related condition [RCV003932887]|Isolated growth hormone deficiency type IB [RCV001160015]|not provided [RCV000904439] Chr7:30976423 [GRCh38]
Chr7:31016038 [GRCh37]
Chr7:7p14.3		 likely benign|uncertain significance
NM_000823.4(GHRHR):c.93C>T (p.Ile31=) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001159909]|not provided [RCV000926477] Chr7:30968869 [GRCh38]
Chr7:31008484 [GRCh37]
Chr7:7p14.3		 likely benign|uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000823.4(GHRHR):c.489C>G (p.Tyr163Ter) single nucleotide variant Isolated growth hormone deficiency type IB [RCV000779534] Chr7:30971987 [GRCh38]
Chr7:31011602 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1250del (p.Lys417fs) deletion Isolated growth hormone deficiency type IB [RCV000779535]|not provided [RCV001869145] Chr7:30979220 [GRCh38]
Chr7:31018835 [GRCh37]
Chr7:7p14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000823.4(GHRHR):c.882+10T>C single nucleotide variant not provided [RCV000888489] Chr7:30975050 [GRCh38]
Chr7:31014665 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.876G>C (p.Ser292=) single nucleotide variant not provided [RCV000930931] Chr7:30975034 [GRCh38]
Chr7:31014649 [GRCh37]
Chr7:7p14.3		 likely benign
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1 copy number loss not provided [RCV001005924] Chr7:23877135..33139446 [GRCh37]
Chr7:7p15.3-14.3		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000823.4(GHRHR):c.751+12G>A single nucleotide variant Isolated growth hormone deficiency type IB [RCV001164933]|not provided [RCV002068002] Chr7:30974150 [GRCh38]
Chr7:31013765 [GRCh37]
Chr7:7p14.3		 benign|likely benign|uncertain significance
NM_000823.4(GHRHR):c.1242G>A (p.Ser414=) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001160018]|not provided [RCV002070977] Chr7:30979214 [GRCh38]
Chr7:31018829 [GRCh37]
Chr7:7p14.3		 benign|uncertain significance
NM_000823.4(GHRHR):c.366+153T>C single nucleotide variant not provided [RCV001673394] Chr7:30970117 [GRCh38]
Chr7:31009732 [GRCh37]
Chr7:7p14.3		 benign
NC_000007.14:g.30963834C>T single nucleotide variant not provided [RCV001597343] Chr7:30963834 [GRCh38]
Chr7:31003449 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.975-26G>A single nucleotide variant not provided [RCV001615774] Chr7:30976403 [GRCh38]
Chr7:31016018 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.160+56C>T single nucleotide variant not provided [RCV001707488] Chr7:30968992 [GRCh38]
Chr7:31008607 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.57+221A>G single nucleotide variant not provided [RCV001691348] Chr7:30964346 [GRCh38]
Chr7:31003961 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.812+4A>C single nucleotide variant Disorder of sexual differentiation [RCV001568322] Chr7:30974493 [GRCh38]
Chr7:31014108 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.507C>G (p.Phe169Leu) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001162867]|not provided [RCV003574850] Chr7:30972005 [GRCh38]
Chr7:31011620 [GRCh37]
Chr7:7p14.3		 likely pathogenic|uncertain significance
NM_000823.4(GHRHR):c.6C>T (p.Asp2=) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001164824]|not provided [RCV002557411] Chr7:30964074 [GRCh38]
Chr7:31003689 [GRCh37]
Chr7:7p14.3		 likely benign|uncertain significance
NM_000823.4(GHRHR):c.882+11G>A single nucleotide variant Isolated growth hormone deficiency type IB [RCV001164936] Chr7:30975051 [GRCh38]
Chr7:31014666 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.47C>T (p.Pro16Leu) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001159908]|not provided [RCV002070975] Chr7:30964115 [GRCh38]
Chr7:31003730 [GRCh37]
Chr7:7p14.3		 likely benign|uncertain significance
NM_000823.4(GHRHR):c.151A>G (p.Thr51Ala) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001159910] Chr7:30968927 [GRCh38]
Chr7:31008542 [GRCh37]
Chr7:7p14.3		 likely benign
GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3 copy number gain not provided [RCV001005926] Chr7:28487175..32037495 [GRCh37]
Chr7:7p15.1-14.3		 likely pathogenic
NM_000823.4(GHRHR):c.57+79C>T single nucleotide variant not provided [RCV001540651] Chr7:30964204 [GRCh38]
Chr7:31003819 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.974+82T>G single nucleotide variant not provided [RCV001597746] Chr7:30975950 [GRCh38]
Chr7:31015565 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.57+298G>A single nucleotide variant not provided [RCV001617147] Chr7:30964423 [GRCh38]
Chr7:31004038 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.1146+166G>C single nucleotide variant not provided [RCV001673860] Chr7:30977488 [GRCh38]
Chr7:31017103 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.751+16G>T single nucleotide variant not provided [RCV001717963] Chr7:30974154 [GRCh38]
Chr7:31013769 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.268+267C>G single nucleotide variant not provided [RCV001698701] Chr7:30969437 [GRCh38]
Chr7:31009052 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.268+112C>T single nucleotide variant not provided [RCV001636306] Chr7:30969282 [GRCh38]
Chr7:31008897 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.447C>T (p.Thr149=) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001161314] Chr7:30971199 [GRCh38]
Chr7:31010814 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.359C>T (p.Ala120Val) single nucleotide variant Inborn genetic diseases [RCV002557375]|Isolated growth hormone deficiency type IB [RCV001161313]|not provided [RCV002558536] Chr7:30969957 [GRCh38]
Chr7:31009572 [GRCh37]
Chr7:7p14.3		 benign|uncertain significance
NM_000823.4(GHRHR):c.174C>A (p.Thr58=) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001159911] Chr7:30969076 [GRCh38]
Chr7:31008691 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.974+15T>G single nucleotide variant Isolated growth hormone deficiency type IB [RCV001160014] Chr7:30975883 [GRCh38]
Chr7:31015498 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1165C>T (p.Arg389Trp) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001160017]|not provided [RCV002032476] Chr7:30979137 [GRCh38]
Chr7:31018752 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.580C>T (p.His194Tyr) single nucleotide variant Inborn genetic diseases [RCV002559559]|Isolated growth hormone deficiency type IB [RCV001162868] Chr7:30972078 [GRCh38]
Chr7:31011693 [GRCh37]
Chr7:7p14.3		 likely benign|uncertain significance
NM_000823.4(GHRHR):c.237G>A (p.Pro79=) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001161310]|not provided [RCV002071001] Chr7:30969139 [GRCh38]
Chr7:31008754 [GRCh37]
Chr7:7p14.3		 benign|uncertain significance
NM_000823.4(GHRHR):c.975-204G>T single nucleotide variant not provided [RCV001709366] Chr7:30976225 [GRCh38]
Chr7:31015840 [GRCh37]
Chr7:7p14.3		 benign
NC_000007.14:g.30963808C>T single nucleotide variant not provided [RCV001665915] Chr7:30963808 [GRCh38]
Chr7:31003423 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.751+104G>T single nucleotide variant not provided [RCV001667242] Chr7:30974242 [GRCh38]
Chr7:31013857 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.465-229G>T single nucleotide variant not provided [RCV001696296] Chr7:30971734 [GRCh38]
Chr7:31011349 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.975-165G>A single nucleotide variant not provided [RCV001710804] Chr7:30976264 [GRCh38]
Chr7:31015879 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.597+293C>T single nucleotide variant not provided [RCV001616044] Chr7:30972388 [GRCh38]
Chr7:31012003 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.490G>A (p.Val164Ile) single nucleotide variant Inborn genetic diseases [RCV003363126]|Isolated growth hormone deficiency type IB [RCV001162866]|not provided [RCV002032501] Chr7:30971988 [GRCh38]
Chr7:31011603 [GRCh37]
Chr7:7p14.3		 likely benign|uncertain significance
NM_000823.4(GHRHR):c.10C>T (p.Arg4Trp) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001159907]|not provided [RCV002032472] Chr7:30964078 [GRCh38]
Chr7:31003693 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.200C>T (p.Thr67Met) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001159912]|not provided [RCV002557366] Chr7:30969102 [GRCh38]
Chr7:31008717 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1105-14C>G single nucleotide variant Isolated growth hormone deficiency type IB [RCV001160016]|not provided [RCV002070976] Chr7:30977267 [GRCh38]
Chr7:31016882 [GRCh37]
Chr7:7p14.3		 benign|uncertain significance
NM_000823.4(GHRHR):c.*29A>G single nucleotide variant Isolated growth hormone deficiency type IB [RCV001160019] Chr7:30979273 [GRCh38]
Chr7:31018888 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.272C>T (p.Ala91Val) single nucleotide variant GHRHR-related condition [RCV003953547]|Isolated growth hormone deficiency type IB [RCV001161311]|not provided [RCV002071002] Chr7:30969870 [GRCh38]
Chr7:31009485 [GRCh37]
Chr7:7p14.3		 benign|likely benign
NM_000823.4(GHRHR):c.279A>G (p.Lys93=) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001161312] Chr7:30969877 [GRCh38]
Chr7:31009492 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.*88T>A single nucleotide variant Isolated growth hormone deficiency type IB [RCV001161433] Chr7:30979332 [GRCh38]
Chr7:31018947 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1104+6G>A single nucleotide variant not provided [RCV001907945] Chr7:30976564 [GRCh38]
Chr7:31016179 [GRCh37]
Chr7:7p14.3		 uncertain significance
GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3 copy number gain not provided [RCV001258937] Chr7:29758030..31318843 [GRCh37]
Chr7:7p14.3		 likely pathogenic
NM_000823.4(GHRHR):c.913C>T (p.Arg305Cys) single nucleotide variant Inborn genetic diseases [RCV001266929] Chr7:30975807 [GRCh38]
Chr7:31015422 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter) single nucleotide variant Isolated growth hormone deficiency, type 4 [RCV001293712] Chr7:30974118 [GRCh38]
Chr7:31013733 [GRCh37]
Chr7:7p14.3		 likely pathogenic
NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu) single nucleotide variant Isolated growth hormone deficiency type IB [RCV001333568]|not provided [RCV001871850] Chr7:30964121 [GRCh38]
Chr7:31003736 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.967C>T (p.Gln323Ter) single nucleotide variant Isolated growth hormone deficiency, type 4 [RCV001374715] Chr7:30975861 [GRCh38]
Chr7:31015476 [GRCh37]
Chr7:7p14.3		 pathogenic
NM_000823.4(GHRHR):c.974+214C>G single nucleotide variant not provided [RCV001686400] Chr7:30976082 [GRCh38]
Chr7:31015697 [GRCh37]
Chr7:7p14.3		 benign
NC_000007.13:g.(?_30655492)_(31018859_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV002238224] Chr7:30655492..31018859 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys) single nucleotide variant Isolated growth hormone deficiency, type 4 [RCV001783363] Chr7:30976523 [GRCh38]
Chr7:31016138 [GRCh37]
Chr7:7p14.3		 pathogenic
NM_000823.4(GHRHR):c.313T>C (p.Phe105Leu) single nucleotide variant not provided [RCV001772895] Chr7:30969911 [GRCh38]
Chr7:31009526 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.170C>T (p.Ala57Val) single nucleotide variant not provided [RCV001795774] Chr7:30969072 [GRCh38]
Chr7:31008687 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.1193_1202del (p.Leu398fs) deletion not provided [RCV001760577] Chr7:30979162..30979171 [GRCh38]
Chr7:31018777..31018786 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.253T>C (p.Phe85Leu) single nucleotide variant not provided [RCV002025409] Chr7:30969155 [GRCh38]
Chr7:31008770 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1087G>A (p.Gly363Arg) single nucleotide variant not provided [RCV001915451] Chr7:30976541 [GRCh38]
Chr7:31016156 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.28G>A (p.Val10Ile) single nucleotide variant not provided [RCV001965748] Chr7:30964096 [GRCh38]
Chr7:31003711 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1108T>C (p.Phe370Leu) single nucleotide variant not provided [RCV001985711] Chr7:30977284 [GRCh38]
Chr7:31016899 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1105-3C>A single nucleotide variant not provided [RCV002042227] Chr7:30977278 [GRCh38]
Chr7:31016893 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.974+9T>A single nucleotide variant not provided [RCV001982767] Chr7:30975877 [GRCh38]
Chr7:31015492 [GRCh37]
Chr7:7p14.3		 uncertain significance
NC_000007.13:g.(?_30054351)_(31018859_?)dup duplication Ehlers-Danlos syndrome, kyphoscoliotic and deafness type [RCV001911803] Chr7:30054351..31018859 [GRCh37]
Chr7:7p14.3		 uncertain significance
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473) copy number gain not specified [RCV002053677] Chr7:27507832..39072473 [GRCh37]
Chr7:7p15.2-14.1		 likely pathogenic
NM_000823.4(GHRHR):c.976C>T (p.Arg326Cys) single nucleotide variant not provided [RCV002001949] Chr7:30976430 [GRCh38]
Chr7:31016045 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1268G>A (p.Cys423Tyr) single nucleotide variant not provided [RCV002024452] Chr7:30979240 [GRCh38]
Chr7:31018855 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.481C>T (p.Arg161Trp) single nucleotide variant not provided [RCV001871754] Chr7:30971979 [GRCh38]
Chr7:31011594 [GRCh37]
Chr7:7p14.3		 pathogenic|likely pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) copy number gain not specified [RCV002053668] Chr7:10745750..35305167 [GRCh37]
Chr7:7p21.3-14.2		 likely pathogenic
NM_000823.4(GHRHR):c.193_194inv (p.Trp65Gln) inversion not provided [RCV001900586] Chr7:30969095..30969096 [GRCh38]
Chr7:31008710..31008711 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.328G>A (p.Val110Met) single nucleotide variant not provided [RCV001906127] Chr7:30969926 [GRCh38]
Chr7:31009541 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1238G>A (p.Arg413His) single nucleotide variant not provided [RCV001923291] Chr7:30979210 [GRCh38]
Chr7:31018825 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1009C>T (p.Leu337Phe) single nucleotide variant Inborn genetic diseases [RCV002548190]|not provided [RCV002016743] Chr7:30976463 [GRCh38]
Chr7:31016078 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.425T>C (p.Val142Ala) single nucleotide variant not provided [RCV001977443] Chr7:30971177 [GRCh38]
Chr7:31010792 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.614C>T (p.Ser205Phe) single nucleotide variant not provided [RCV001878362] Chr7:30974001 [GRCh38]
Chr7:31013616 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV001878790] Chr7:30964069 [GRCh38]
Chr7:31003684 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1086G>A (p.Leu362=) single nucleotide variant not provided [RCV002030003] Chr7:30976540 [GRCh38]
Chr7:31016155 [GRCh37]
Chr7:7p14.3		 likely benign|uncertain significance
NM_000823.4(GHRHR):c.887A>G (p.Asn296Ser) single nucleotide variant not provided [RCV001883542] Chr7:30975781 [GRCh38]
Chr7:31015396 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1146+3G>A single nucleotide variant not provided [RCV002011240] Chr7:30977325 [GRCh38]
Chr7:31016940 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.22dup (p.Ala8fs) duplication not provided [RCV001959045] Chr7:30964084..30964085 [GRCh38]
Chr7:31003699..31003700 [GRCh37]
Chr7:7p14.3		 pathogenic
NM_000823.4(GHRHR):c.8G>A (p.Arg3His) single nucleotide variant not provided [RCV001916657] Chr7:30964076 [GRCh38]
Chr7:31003691 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.280C>T (p.Arg94Trp) single nucleotide variant not provided [RCV001989908] Chr7:30969878 [GRCh38]
Chr7:31009493 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.171G>A (p.Ala57=) single nucleotide variant not provided [RCV002105353] Chr7:30969073 [GRCh38]
Chr7:31008688 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.975-18G>A single nucleotide variant not provided [RCV002125070]|not specified [RCV003403698] Chr7:30976411 [GRCh38]
Chr7:31016026 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.354G>A (p.Leu118=) single nucleotide variant not provided [RCV002071081] Chr7:30969952 [GRCh38]
Chr7:31009567 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.759C>T (p.Pro253=) single nucleotide variant not provided [RCV002189989] Chr7:30974436 [GRCh38]
Chr7:31014051 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.801C>T (p.Phe267=) single nucleotide variant not provided [RCV002084923] Chr7:30974478 [GRCh38]
Chr7:31014093 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.161-18T>C single nucleotide variant not provided [RCV002210146] Chr7:30969045 [GRCh38]
Chr7:31008660 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.27C>T (p.His9=) single nucleotide variant not provided [RCV002075086] Chr7:30964095 [GRCh38]
Chr7:31003710 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.327T>C (p.Pro109=) single nucleotide variant not provided [RCV002072666] Chr7:30969925 [GRCh38]
Chr7:31009540 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.975-9T>C single nucleotide variant GHRHR-related condition [RCV003958547]|not provided [RCV002188197] Chr7:30976420 [GRCh38]
Chr7:31016035 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.813-18T>C single nucleotide variant not provided [RCV002153736] Chr7:30974953 [GRCh38]
Chr7:31014568 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.160+8G>A single nucleotide variant not provided [RCV002080473] Chr7:30968944 [GRCh38]
Chr7:31008559 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.687C>T (p.Cys229=) single nucleotide variant not provided [RCV002115216] Chr7:30974074 [GRCh38]
Chr7:31013689 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.384A>G (p.Thr128=) single nucleotide variant not provided [RCV002092715] Chr7:30971136 [GRCh38]
Chr7:31010751 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.812+7C>T single nucleotide variant not provided [RCV002174117] Chr7:30974496 [GRCh38]
Chr7:31014111 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.658C>T (p.Leu220=) single nucleotide variant not provided [RCV002112855] Chr7:30974045 [GRCh38]
Chr7:31013660 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.975-18G>T single nucleotide variant not provided [RCV002131039] Chr7:30976411 [GRCh38]
Chr7:31016026 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.1105-9G>T single nucleotide variant not provided [RCV002073753] Chr7:30977272 [GRCh38]
Chr7:31016887 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.756G>A (p.Leu252=) single nucleotide variant not provided [RCV002192243] Chr7:30974433 [GRCh38]
Chr7:31014048 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.57+17G>C single nucleotide variant not provided [RCV002145525] Chr7:30964142 [GRCh38]
Chr7:31003757 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.812+8G>A single nucleotide variant not provided [RCV002207393] Chr7:30974497 [GRCh38]
Chr7:31014112 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.810C>T (p.Ile270=) single nucleotide variant not provided [RCV002204127] Chr7:30974487 [GRCh38]
Chr7:31014102 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.561C>T (p.Phe187=) single nucleotide variant not provided [RCV002157014] Chr7:30972059 [GRCh38]
Chr7:31011674 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.1146+19T>C single nucleotide variant not provided [RCV002158910] Chr7:30977341 [GRCh38]
Chr7:31016956 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.882+12G>C single nucleotide variant not provided [RCV002175498] Chr7:30975052 [GRCh38]
Chr7:31014667 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.751+18G>T single nucleotide variant not provided [RCV002216903] Chr7:30974156 [GRCh38]
Chr7:31013771 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.879C>T (p.Val293=) single nucleotide variant GHRHR-related condition [RCV003923600]|not provided [RCV002122309] Chr7:30975037 [GRCh38]
Chr7:31014652 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.882+18T>A single nucleotide variant not provided [RCV002204620] Chr7:30975058 [GRCh38]
Chr7:31014673 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.1014T>C (p.Phe338=) single nucleotide variant not provided [RCV002144044] Chr7:30976468 [GRCh38]
Chr7:31016083 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.990G>A (p.Ser330=) single nucleotide variant not provided [RCV002140600] Chr7:30976444 [GRCh38]
Chr7:31016059 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.1071C>A (p.Arg357=) single nucleotide variant not provided [RCV002100839] Chr7:30976525 [GRCh38]
Chr7:31016140 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.828C>T (p.Asp276=) single nucleotide variant not provided [RCV002219692] Chr7:30974986 [GRCh38]
Chr7:31014601 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.124C>T (p.Leu42=) single nucleotide variant not provided [RCV002180432] Chr7:30968900 [GRCh38]
Chr7:31008515 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.1104+20C>T single nucleotide variant not provided [RCV002140593] Chr7:30976578 [GRCh38]
Chr7:31016193 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.876G>A (p.Ser292=) single nucleotide variant not provided [RCV003116949] Chr7:30975034 [GRCh38]
Chr7:31014649 [GRCh37]
Chr7:7p14.3		 likely benign
NC_000007.14:g.30969869dup duplication not provided [RCV003112190] Chr7:30969865..30969866 [GRCh38]
Chr7:31009480..31009481 [GRCh37]
Chr7:7p14.3		 pathogenic
NM_000823.4(GHRHR):c.1208G>T (p.Arg403Met) single nucleotide variant not provided [RCV003117251] Chr7:30979180 [GRCh38]
Chr7:31018795 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.213C>T (p.Gly71=) single nucleotide variant not provided [RCV003121145] Chr7:30969115 [GRCh38]
Chr7:31008730 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.527C>T (p.Ala176Val) single nucleotide variant Isolated growth hormone deficiency, type 4 [RCV003317586]|not provided [RCV002260860] Chr7:30972025 [GRCh38]
Chr7:31011640 [GRCh37]
Chr7:7p14.3		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069) copy number loss Cyclical vomiting syndrome [RCV002280775] Chr7:25451740..33864069 [GRCh37]
Chr7:7p15.3-14.3		 pathogenic
GRCh37/hg19 7p14.3(chr7:30567050-31415774)x3 copy number gain not provided [RCV002474912] Chr7:30567050..31415774 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1074C>T (p.Leu358=) single nucleotide variant not provided [RCV002681413] Chr7:30976528 [GRCh38]
Chr7:31016143 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.161-17C>T single nucleotide variant not provided [RCV002858190] Chr7:30969046 [GRCh38]
Chr7:31008661 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.742G>A (p.Ala248Thr) single nucleotide variant Inborn genetic diseases [RCV002682966] Chr7:30974129 [GRCh38]
Chr7:31013744 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.751+15C>G single nucleotide variant not provided [RCV002730460] Chr7:30974153 [GRCh38]
Chr7:31013768 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.422T>C (p.Ile141Thr) single nucleotide variant Inborn genetic diseases [RCV002750048] Chr7:30971174 [GRCh38]
Chr7:31010789 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.464+17A>G single nucleotide variant not provided [RCV002861841] Chr7:30971233 [GRCh38]
Chr7:31010848 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.1241C>T (p.Ser414Leu) single nucleotide variant Inborn genetic diseases [RCV002994844]|not provided [RCV002994843] Chr7:30979213 [GRCh38]
Chr7:31018828 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.974+14G>A single nucleotide variant not provided [RCV002843187] Chr7:30975882 [GRCh38]
Chr7:31015497 [GRCh37]
Chr7:7p14.3		 likely benign
GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1 copy number loss not provided [RCV002475752] Chr7:27133786..34466477 [GRCh37]
Chr7:7p15.2-14.3		 pathogenic
NM_000823.4(GHRHR):c.817T>C (p.Trp273Arg) single nucleotide variant not provided [RCV002909536] Chr7:30974975 [GRCh38]
Chr7:31014590 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1017A>G (p.Gly339=) single nucleotide variant not provided [RCV002706232] Chr7:30976471 [GRCh38]
Chr7:31016086 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.300C>T (p.Gly100=) single nucleotide variant not provided [RCV002620516] Chr7:30969898 [GRCh38]
Chr7:31009513 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.1147-8C>T single nucleotide variant not provided [RCV002975798] Chr7:30979111 [GRCh38]
Chr7:31018726 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.269-13G>A single nucleotide variant not provided [RCV003038990] Chr7:30969854 [GRCh38]
Chr7:31009469 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.11G>A (p.Arg4Gln) single nucleotide variant not provided [RCV002780937] Chr7:30964079 [GRCh38]
Chr7:31003694 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1146+1G>T single nucleotide variant not provided [RCV002735717] Chr7:30977323 [GRCh38]
Chr7:31016938 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.581A>G (p.His194Arg) single nucleotide variant Inborn genetic diseases [RCV002978201] Chr7:30972079 [GRCh38]
Chr7:31011694 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.465-6C>G single nucleotide variant not provided [RCV002976553] Chr7:30971957 [GRCh38]
Chr7:31011572 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.161-11T>C single nucleotide variant not provided [RCV003036104] Chr7:30969052 [GRCh38]
Chr7:31008667 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.622G>A (p.Ala208Thr) single nucleotide variant not provided [RCV003079075] Chr7:30974009 [GRCh38]
Chr7:31013624 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1027A>C (p.Ile343Leu) single nucleotide variant not provided [RCV002667936] Chr7:30976481 [GRCh38]
Chr7:31016096 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.996T>A (p.Leu332=) single nucleotide variant not provided [RCV002894517] Chr7:30976450 [GRCh38]
Chr7:31016065 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.231C>T (p.Pro77=) single nucleotide variant not provided [RCV003008122] Chr7:30969133 [GRCh38]
Chr7:31008748 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.862C>T (p.Pro288Ser) single nucleotide variant Inborn genetic diseases [RCV002916678] Chr7:30975020 [GRCh38]
Chr7:31014635 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.577G>A (p.Asp193Asn) single nucleotide variant not provided [RCV003006052] Chr7:30972075 [GRCh38]
Chr7:31011690 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.752G>A (p.Gly251Glu) single nucleotide variant not provided [RCV002643565] Chr7:30974429 [GRCh38]
Chr7:31014044 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.15G>T (p.Met5Ile) single nucleotide variant not provided [RCV003025853] Chr7:30964083 [GRCh38]
Chr7:31003698 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.998T>G (p.Phe333Cys) single nucleotide variant Inborn genetic diseases [RCV002915906] Chr7:30976452 [GRCh38]
Chr7:31016067 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.436G>A (p.Val146Met) single nucleotide variant not provided [RCV002625601] Chr7:30971188 [GRCh38]
Chr7:31010803 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1146+4T>A single nucleotide variant not provided [RCV002624623] Chr7:30977326 [GRCh38]
Chr7:31016941 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.751+17G>A single nucleotide variant not provided [RCV002601946] Chr7:30974155 [GRCh38]
Chr7:31013770 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.998T>A (p.Phe333Tyr) single nucleotide variant Inborn genetic diseases [RCV002941534] Chr7:30976452 [GRCh38]
Chr7:31016067 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.504G>A (p.Leu168=) single nucleotide variant not provided [RCV003044318] Chr7:30972002 [GRCh38]
Chr7:31011617 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.201G>A (p.Thr67=) single nucleotide variant not provided [RCV003087732]|not specified [RCV003988050] Chr7:30969103 [GRCh38]
Chr7:31008718 [GRCh37]
Chr7:7p14.3		 likely benign|uncertain significance
NM_000823.4(GHRHR):c.394A>G (p.Ile132Val) single nucleotide variant Inborn genetic diseases [RCV002895975] Chr7:30971146 [GRCh38]
Chr7:31010761 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.405G>A (p.Val135=) single nucleotide variant not provided [RCV002598003] Chr7:30971157 [GRCh38]
Chr7:31010772 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.282G>T (p.Arg94=) single nucleotide variant not provided [RCV002857310] Chr7:30969880 [GRCh38]
Chr7:31009495 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.385G>A (p.Val129Met) single nucleotide variant not provided [RCV002578917] Chr7:30971137 [GRCh38]
Chr7:31010752 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.224C>A (p.Thr75Asn) single nucleotide variant not provided [RCV003061937] Chr7:30969126 [GRCh38]
Chr7:31008741 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.520C>T (p.Leu174Phe) single nucleotide variant not provided [RCV002722181] Chr7:30972018 [GRCh38]
Chr7:31011633 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1105-11T>C single nucleotide variant not provided [RCV002725406] Chr7:30977270 [GRCh38]
Chr7:31016885 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.571G>A (p.Asp191Asn) single nucleotide variant Inborn genetic diseases [RCV002655282] Chr7:30972069 [GRCh38]
Chr7:31011684 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.174C>G (p.Thr58=) single nucleotide variant not provided [RCV002680669] Chr7:30969076 [GRCh38]
Chr7:31008691 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.1076C>T (p.Pro359Leu) single nucleotide variant not provided [RCV002582794] Chr7:30976530 [GRCh38]
Chr7:31016145 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.882+20C>A single nucleotide variant not provided [RCV002604865] Chr7:30975060 [GRCh38]
Chr7:31014675 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.882+7C>T single nucleotide variant not provided [RCV003066940] Chr7:30975047 [GRCh38]
Chr7:31014662 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.811G>A (p.Ala271Thr) single nucleotide variant Inborn genetic diseases [RCV003161745]|not provided [RCV003093709] Chr7:30974488 [GRCh38]
Chr7:31014103 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1246G>A (p.Ala416Thr) single nucleotide variant not provided [RCV002585826] Chr7:30979218 [GRCh38]
Chr7:31018833 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.788G>T (p.Cys263Phe) single nucleotide variant not provided [RCV002609596] Chr7:30974465 [GRCh38]
Chr7:31014080 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.136GAG[1] (p.Glu47del) microsatellite not provided [RCV003069516] Chr7:30968912..30968914 [GRCh38]
Chr7:31008527..31008529 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.57+19C>A single nucleotide variant not provided [RCV002612946] Chr7:30964144 [GRCh38]
Chr7:31003759 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.260C>A (p.Ser87Ter) single nucleotide variant Isolated growth hormone deficiency, type 4 [RCV003145839] Chr7:30969162 [GRCh38]
Chr7:31008777 [GRCh37]
Chr7:7p14.3		 likely pathogenic
NM_000823.4(GHRHR):c.1213C>T (p.Arg405Cys) single nucleotide variant Isolated growth hormone deficiency, type 4 [RCV003142557] Chr7:30979185 [GRCh38]
Chr7:31018800 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.989C>T (p.Ser330Leu) single nucleotide variant not specified [RCV003324402] Chr7:30976443 [GRCh38]
Chr7:31016058 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.839C>T (p.Pro280Leu) single nucleotide variant Inborn genetic diseases [RCV003359945] Chr7:30974997 [GRCh38]
Chr7:31014612 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.464+8A>G single nucleotide variant not provided [RCV003872606] Chr7:30971224 [GRCh38]
Chr7:31010839 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.1245G>A (p.Ala415=) single nucleotide variant not provided [RCV003571158] Chr7:30979217 [GRCh38]
Chr7:31018832 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.269-26G>T single nucleotide variant not provided [RCV003436706] Chr7:30969841 [GRCh38]
Chr7:31009456 [GRCh37]
Chr7:7p14.3		 benign
NM_000823.4(GHRHR):c.1244C>T (p.Ala415Val) single nucleotide variant not provided [RCV003436707] Chr7:30979216 [GRCh38]
Chr7:31018831 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.873C>T (p.Leu291=) single nucleotide variant not provided [RCV003739749] Chr7:30975031 [GRCh38]
Chr7:31014646 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.598-7C>A single nucleotide variant not provided [RCV003848737] Chr7:30973978 [GRCh38]
Chr7:31013593 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.268+11del deletion not provided [RCV003577299] Chr7:30969181 [GRCh38]
Chr7:31008796 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.1060C>T (p.Leu354=) single nucleotide variant not provided [RCV003811962] Chr7:30976514 [GRCh38]
Chr7:31016129 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.213C>G (p.Gly71=) single nucleotide variant not provided [RCV003701321] Chr7:30969115 [GRCh38]
Chr7:31008730 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.883-19C>G single nucleotide variant not provided [RCV003700283] Chr7:30975758 [GRCh38]
Chr7:31015373 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.312C>T (p.Pro104=) single nucleotide variant not provided [RCV003725375] Chr7:30969910 [GRCh38]
Chr7:31009525 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.1105-4A>C single nucleotide variant not provided [RCV003854876] Chr7:30977277 [GRCh38]
Chr7:31016892 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.1140C>T (p.Asn380=) single nucleotide variant not provided [RCV003832552] Chr7:30977316 [GRCh38]
Chr7:31016931 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.597+7G>T single nucleotide variant not provided [RCV003736277] Chr7:30972102 [GRCh38]
Chr7:31011717 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.633C>T (p.Phe211=) single nucleotide variant not provided [RCV003843274] Chr7:30974020 [GRCh38]
Chr7:31013635 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.461_462del (p.Leu154fs) microsatellite not provided [RCV003685133] Chr7:30971210..30971211 [GRCh38]
Chr7:31010825..31010826 [GRCh37]
Chr7:7p14.3		 pathogenic
GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3 copy number gain not specified [RCV003986729] Chr7:28940557..31806164 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.402C>T (p.Thr134=) single nucleotide variant not provided [RCV003554349] Chr7:30971154 [GRCh38]
Chr7:31010769 [GRCh37]
Chr7:7p14.3		 likely benign
GRCh37/hg19 7p14.3(chr7:30655068-31166676)x3 copy number gain not specified [RCV003986699] Chr7:30655068..31166676 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_000823.4(GHRHR):c.1042C>T (p.Leu348=) single nucleotide variant not provided [RCV003865946] Chr7:30976496 [GRCh38]
Chr7:31016111 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.269-3del deletion not provided [RCV003821848] Chr7:30969862 [GRCh38]
Chr7:31009477 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.63G>A (p.Leu21=) single nucleotide variant not provided [RCV003733125] Chr7:30968839 [GRCh38]
Chr7:31008454 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.290del (p.Thr97fs) deletion not provided [RCV003553697] Chr7:30969888 [GRCh38]
Chr7:31009503 [GRCh37]
Chr7:7p14.3		 pathogenic
NC_000007.14:g.31008671T>G single nucleotide variant GHRHR-related condition [RCV003898947] Chr7:31008671 [GRCh38]
Chr7:31048286 [GRCh37]
Chr7:7p14.3		 likely benign
NM_000823.4(GHRHR):c.160+1G>T single nucleotide variant not provided [RCV003886781] Chr7:30968937 [GRCh38]
Chr7:31008552 [GRCh37]
Chr7:7p14.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3159
Count of miRNA genes:907
Interacting mature miRNAs:1101
Transcripts:ENST00000326139, ENST00000337750, ENST00000396227, ENST00000409316, ENST00000409904, ENST00000461390, ENST00000461424, ENST00000463164, ENST00000466427, ENST00000473133, ENST00000489974
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
GDB:6028546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,002,456 - 31,002,649UniSTSGRCh37
Build 36730,968,981 - 30,969,174RGDNCBI36
Celera730,991,660 - 30,991,853RGD
Cytogenetic Map7p14UniSTS
HuRef730,884,674 - 30,884,867UniSTS
CRA_TCAGchr7v2731,051,960 - 31,052,153UniSTS
G68148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,003,621 - 31,003,927UniSTSGRCh37
Build 36730,970,146 - 30,970,452RGDNCBI36
Celera730,992,825 - 30,993,131RGD
Cytogenetic Map7p14UniSTS
HuRef730,885,839 - 30,886,145UniSTS
CRA_TCAGchr7v2731,053,125 - 31,053,431UniSTS
G68145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,009,399 - 31,009,711UniSTSGRCh37
Build 36730,975,924 - 30,976,236RGDNCBI36
Celera730,998,604 - 30,998,916RGD
Cytogenetic Map7p14UniSTS
HuRef730,891,631 - 30,891,943UniSTS
CRA_TCAGchr7v2731,058,904 - 31,059,216UniSTS
GHRHR_8370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,018,744 - 31,019,299UniSTSGRCh37
Build 36730,985,269 - 30,985,824RGDNCBI36
Celera731,007,949 - 31,008,504RGD
HuRef730,900,976 - 30,901,531UniSTS
CRA_TCAGchr7v2731,068,249 - 31,068,804UniSTS
GHRHR  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,018,874 - 31,019,132UniSTSGRCh37
Build 36730,985,399 - 30,985,657RGDNCBI36
Celera731,008,079 - 31,008,337RGD
Cytogenetic Map7p14UniSTS
HuRef730,901,106 - 30,901,364UniSTS
CRA_TCAGchr7v2731,068,379 - 31,068,637UniSTS
WI-7721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,018,861 - 31,019,137UniSTSGRCh37
Build 36730,985,386 - 30,985,662RGDNCBI36
Celera731,008,066 - 31,008,342RGD
Cytogenetic Map7p14UniSTS
HuRef730,901,093 - 30,901,369UniSTS
CRA_TCAGchr7v2731,068,366 - 31,068,642UniSTS
TNG Radiation Hybrid Map714631.0UniSTS
GeneMap99-GB4 RH Map7140.13UniSTS
Whitehead-RH Map799.2UniSTS
NCBI RH Map7461.8UniSTS
SHGC-35683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,015,531 - 31,015,755UniSTSGRCh37
Build 36730,982,056 - 30,982,280RGDNCBI36
Celera731,004,736 - 31,004,960RGD
Cytogenetic Map7p14UniSTS
HuRef730,897,763 - 30,897,987UniSTS
CRA_TCAGchr7v2731,065,036 - 31,065,260UniSTS
TNG Radiation Hybrid Map714625.0UniSTS
Stanford-G3 RH Map71275.0UniSTS
GeneMap99-GB4 RH Map7140.02UniSTS
Whitehead-RH Map794.3UniSTS
NCBI RH Map7461.8UniSTS
GeneMap99-G3 RH Map71275.0UniSTS
G68168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,013,549 - 31,014,137UniSTSGRCh37
Build 36730,980,074 - 30,980,662RGDNCBI36
Celera731,002,754 - 31,003,342RGD
Cytogenetic Map7p14UniSTS
HuRef730,895,781 - 30,896,369UniSTS
CRA_TCAGchr7v2731,063,054 - 31,063,642UniSTS
G68169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,014,476 - 31,014,793UniSTSGRCh37
Build 36730,981,001 - 30,981,318RGDNCBI36
Celera731,003,681 - 31,003,998RGD
Cytogenetic Map7p14UniSTS
HuRef730,896,708 - 30,897,025UniSTS
CRA_TCAGchr7v2731,063,981 - 31,064,298UniSTS
G68170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,015,221 - 31,015,550UniSTSGRCh37
Build 36730,981,746 - 30,982,075RGDNCBI36
Celera731,004,426 - 31,004,755RGD
Cytogenetic Map7p14UniSTS
HuRef730,897,453 - 30,897,782UniSTS
CRA_TCAGchr7v2731,064,726 - 31,065,055UniSTS
G68171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,015,890 - 31,016,281UniSTSGRCh37
Build 36730,982,415 - 30,982,806RGDNCBI36
Celera731,005,095 - 31,005,486RGD
Cytogenetic Map7p14UniSTS
HuRef730,898,122 - 30,898,513UniSTS
CRA_TCAGchr7v2731,065,395 - 31,065,786UniSTS
G68172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,016,813 - 31,017,144UniSTSGRCh37
Build 36730,983,338 - 30,983,669RGDNCBI36
Celera731,006,018 - 31,006,349RGD
Cytogenetic Map7p14UniSTS
HuRef730,899,045 - 30,899,376UniSTS
CRA_TCAGchr7v2731,066,318 - 31,066,649UniSTS
G68173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,018,662 - 31,019,022UniSTSGRCh37
Build 36730,985,187 - 30,985,547RGDNCBI36
Celera731,007,867 - 31,008,227RGD
Cytogenetic Map7p14UniSTS
HuRef730,900,894 - 30,901,254UniSTS
CRA_TCAGchr7v2731,068,167 - 31,068,527UniSTS
G68174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,008,396 - 31,008,873UniSTSGRCh37
Build 36730,974,921 - 30,975,398RGDNCBI36
Celera730,997,601 - 30,998,078RGD
Cytogenetic Map7p14UniSTS
HuRef730,890,628 - 30,891,105UniSTS
CRA_TCAGchr7v2731,057,901 - 31,058,378UniSTS
G68166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,010,548 - 31,010,969UniSTSGRCh37
Build 36730,977,073 - 30,977,494RGDNCBI36
Celera730,999,753 - 31,000,174RGD
Cytogenetic Map7p14UniSTS
HuRef730,892,780 - 30,893,201UniSTS
CRA_TCAGchr7v2731,060,053 - 31,060,474UniSTS
G68167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,011,362 - 31,011,768UniSTSGRCh37
Build 36730,977,887 - 30,978,293RGDNCBI36
Celera731,000,567 - 31,000,973RGD
Cytogenetic Map7p14UniSTS
HuRef730,893,594 - 30,894,000UniSTS
CRA_TCAGchr7v2731,060,867 - 31,061,273UniSTS


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
High 10 10
Medium 2 1 270 4 4 6 3 265 1 1 5
Low 17 18 128 93 39 89 198 14 184 28 161 120 5 5 10
Below cutoff 1696 1839 872 346 781 231 2445 1242 3023 203 907 1009 116 830 1662

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AACC02000087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB058895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB065701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF282259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF282260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF282261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF282262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV750179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY557192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB348314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ888698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ888699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ888700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ888701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L01406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L09237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U17579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000326139   ⟹   ENSP00000320180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,963,953 - 30,979,528 (+)Ensembl
RefSeq Acc Id: ENST00000337750   ⟹   ENSP00000338184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,969,533 - 30,979,532 (+)Ensembl
RefSeq Acc Id: ENST00000396227   ⟹   ENSP00000379529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,969,533 - 30,979,519 (+)Ensembl
RefSeq Acc Id: ENST00000409316   ⟹   ENSP00000386602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,969,533 - 30,979,528 (+)Ensembl
RefSeq Acc Id: ENST00000409904   ⟹   ENSP00000387113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,969,533 - 30,979,519 (+)Ensembl
RefSeq Acc Id: ENST00000461390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,972,031 - 30,975,977 (+)Ensembl
RefSeq Acc Id: ENST00000461424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,971,969 - 30,985,216 (+)Ensembl
RefSeq Acc Id: ENST00000463164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,976,429 - 30,979,531 (+)Ensembl
RefSeq Acc Id: ENST00000466427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,938,669 - 30,968,879 (+)Ensembl
RefSeq Acc Id: ENST00000473133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,984,081 - 30,993,254 (+)Ensembl
RefSeq Acc Id: ENST00000489974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,970,980 - 30,974,138 (+)Ensembl
RefSeq Acc Id: ENST00000611037   ⟹   ENSP00000480159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,971,969 - 30,984,360 (+)Ensembl
RefSeq Acc Id: NM_000823   ⟹   NP_000814
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,963,953 - 30,979,528 (+)NCBI
GRCh37731,003,636 - 31,019,146 (+)ENTREZGENE
Build 36730,970,161 - 30,985,668 (+)NCBI Archive
HuRef730,885,854 - 30,901,378 (+)ENTREZGENE
CHM1_1731,003,564 - 31,019,092 (+)NCBI
T2T-CHM13v2.0731,101,596 - 31,117,172 (+)NCBI
CRA_TCAGchr7v2731,053,140 - 31,068,651 (+)ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_000814 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35890 (Get FASTA)   NCBI Sequence Viewer  
  AAA58619 (Get FASTA)   NCBI Sequence Viewer  
  AAB18630 (Get FASTA)   NCBI Sequence Viewer  
  AAB18631 (Get FASTA)   NCBI Sequence Viewer  
  AAB18632 (Get FASTA)   NCBI Sequence Viewer  
  AAB37758 (Get FASTA)   NCBI Sequence Viewer  
  AAC23789 (Get FASTA)   NCBI Sequence Viewer  
  AAD14318 (Get FASTA)   NCBI Sequence Viewer  
  AAG15368 (Get FASTA)   NCBI Sequence Viewer  
  AAG15369 (Get FASTA)   NCBI Sequence Viewer  
  AAG15370 (Get FASTA)   NCBI Sequence Viewer  
  AAG15371 (Get FASTA)   NCBI Sequence Viewer  
  AAS59864 (Get FASTA)   NCBI Sequence Viewer  
  ADP89430 (Get FASTA)   NCBI Sequence Viewer  
  ADP89431 (Get FASTA)   NCBI Sequence Viewer  
  ADP89432 (Get FASTA)   NCBI Sequence Viewer  
  ADP89433 (Get FASTA)   NCBI Sequence Viewer  
  BAB40232 (Get FASTA)   NCBI Sequence Viewer  
  BAC05924 (Get FASTA)   NCBI Sequence Viewer  
  EAL24445 (Get FASTA)   NCBI Sequence Viewer  
  EAW93973 (Get FASTA)   NCBI Sequence Viewer  
  EAW93974 (Get FASTA)   NCBI Sequence Viewer  
  EAW93975 (Get FASTA)   NCBI Sequence Viewer  
  EAW93976 (Get FASTA)   NCBI Sequence Viewer  
  EAW93977 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000320180
  ENSP00000320180.2
  ENSP00000338184.4
  ENSP00000379529.2
  ENSP00000386602.1
  ENSP00000387113.3
  ENSP00000480159.1
GenBank Protein Q02643 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_000814   ⟸   NM_000823
- Peptide Label: precursor
- UniProtKB: Q99863 (UniProtKB/Swiss-Prot),   Q02643 (UniProtKB/Swiss-Prot),   A0A090N8Y6 (UniProtKB/TrEMBL),   A0A1B0H7U2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000480159   ⟸   ENST00000611037
RefSeq Acc Id: ENSP00000338184   ⟸   ENST00000337750
RefSeq Acc Id: ENSP00000320180   ⟸   ENST00000326139
RefSeq Acc Id: ENSP00000387113   ⟸   ENST00000409904
RefSeq Acc Id: ENSP00000386602   ⟸   ENST00000409316
RefSeq Acc Id: ENSP00000379529   ⟸   ENST00000396227
Protein Domains
G-protein coupled receptors family 2 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02643-F1-model_v2 AlphaFold Q02643 1-423 view protein structure

Promoters
RGD ID:6805702
Promoter ID:HG_KWN:56850
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000328071
Position:
Human AssemblyChrPosition (strand)Source
Build 36730,989,721 - 30,990,221 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4266 AgrOrtholog
COSMIC GHRHR COSMIC
Ensembl Genes ENSG00000106128 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000326139 ENTREZGENE
  ENST00000326139.7 UniProtKB/Swiss-Prot
  ENST00000337750.9 UniProtKB/TrEMBL
  ENST00000396227.6 UniProtKB/TrEMBL
  ENST00000409316.5 UniProtKB/TrEMBL
  ENST00000409904.7 UniProtKB/TrEMBL
  ENST00000611037.1 UniProtKB/TrEMBL
Gene3D-CATH 4.10.1240.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106128 GTEx
HGNC ID HGNC:4266 ENTREZGENE
Human Proteome Map GHRHR Human Proteome Map
InterPro GPCR_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_extracell_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_extracellular_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_GHRH_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_secretin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_secretin-like_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2692 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2692 ENTREZGENE
OMIM 139191 OMIM
PANTHER PDF RECEPTOR-LIKE PROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45620:SF14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28676 PharmGKB
PRINTS GHRHRECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCRSECRETIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F2_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F2_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HormR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF111418 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A090N8Y6 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0H7U2 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0H834_HUMAN UniProtKB/TrEMBL
  A0A1C6ZRW0_HUMAN UniProtKB/TrEMBL
  GHRHR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8N6C4_HUMAN UniProtKB/TrEMBL
  Q99863 ENTREZGENE
  Q9HB42_HUMAN UniProtKB/TrEMBL
  Q9HB43_HUMAN UniProtKB/TrEMBL
  Q9HB44_HUMAN UniProtKB/TrEMBL
  Q9HB45_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q99863 UniProtKB/Swiss-Prot