GHRHR (growth hormone releasing hormone receptor)

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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 cAMP-mediated signaling; 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.

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	30,963,953 - 30,979,528 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	7	30,938,669 - 30,993,254 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	31,003,568 - 31,019,143 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	30,970,161 - 30,985,668 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	30,776,875 - 30,788,828	NCBI
Celera	7	30,992,840 - 31,008,351 (+)	NCBI		Celera
Cytogenetic Map	7	p14.3	NCBI
HuRef	7	30,885,854 - 30,901,378 (+)	NCBI		HuRef
CHM1_1	7	31,003,564 - 31,019,092 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	7	31,101,596 - 31,117,172 (+)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	31,053,140 - 31,068,651 (+)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Charcot-Marie-Tooth disease type 2 (IAGP)

disorder of sexual development (IAGP)

Ehlers-Danlos syndrome kyphoscoliotic type 2 (IAGP)

Experimental Diabetes Mellitus (ISO)

genetic disease (IAGP)

Genu Valgum (IAGP)

isolated growth hormone deficiency (IAGP,ISO)

isolated growth hormone deficiency type IB (IAGP)

pleomorphic xanthoastrocytoma (IAGP)

Prostatic Neoplasms (ISO)

sleep disorder (ISO)

Upper Airway Obstruction (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP,ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

alendronic acid (ISO)

ammonium chloride (ISO)

atrazine (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

bromobenzene (ISO)

butanal (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

CGP 52608 (EXP)

clothianidin (EXP)

flavonoids (ISO)

folic acid (EXP)

monosodium L-glutamate (ISO)

N-nitrosodiethylamine (ISO)

paracetamol (ISO)

phosphorus atom (EXP)

phosphorus(.) (EXP)

raloxifene (ISO)

tebuconazole (EXP)

tetrachloromethane (ISO)

thimerosal (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

troglitazone (ISO)

Zoxazolamine (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

activation of adenylate cyclase activity (IEA,ISO)

adenohypophysis development (IEA,ISO)

adenylate cyclase-activating G protein-coupled receptor signaling pathway (IBA,IDA,IEA,ISO)

adenylate cyclase-modulating G protein-coupled receptor signaling pathway (IBA)

biological_process (ND)

cAMP-mediated signaling (IEA,IMP,ISO)

cell maturation (IEA,ISO)

cell surface receptor signaling pathway (IEA)

cellular response to glucose stimulus (IEA,ISO)

cellular response to insulin stimulus (IEA,ISO)

determination of adult lifespan (IEA,ISO)

establishment of localization in cell (IEA)

establishment of localization in cell (ISO)

G protein-coupled receptor signaling pathway (IEA)

growth hormone secretion (IEA)

growth hormone secretion (ISO)

hormone metabolic process (IEA,ISO)

hormone secretion (IEA)

hormone secretion (ISO)

lactation (IEA,ISO)

mammary gland development (IEA,ISO)

multicellular organismal reproductive process (NAS)

obsolete water homeostasis (IEA)

positive regulation of cell population proliferation (IBA,IDA,IEA)

positive regulation of circadian sleep/wake cycle, non-REM sleep (IEA,ISO)

positive regulation of growth hormone secretion (IEA,ISO,NAS)

positive regulation of hormone secretion (IEA,ISO)

positive regulation of insulin-like growth factor receptor signaling pathway (NAS)

positive regulation of multicellular organism growth (IEA,IMP,ISO)

regulation of insulin-like growth factor receptor signaling pathway (IEA,ISO)

regulation of intracellular steroid hormone receptor signaling pathway (IEA,ISO)

regulation of protein metabolic process (IEA,ISO)

response to estrogen (IDA)

response to glucocorticoid (IDA)

response to insulin (IMP)

signal transduction (IEA)

signal transduction (ISO)

somatotropin secreting cell development (IEA,ISO)

Cellular Component

cell surface (IDA,IEA,ISO)

cytoplasm (IDA)

membrane (IDA)

membrane (IDA,IEA,NAS)

membrane (NAS)

nuclear inner membrane (IDA)

nuclear matrix (IDA)

nuclear outer membrane (IDA)

plasma membrane (IBA)

plasma membrane (IDA)

plasma membrane (IDA,IEA)

plasma membrane (ISO,TAS)

plasma membrane (TAS)

sarcolemma (IEA,ISO)

secretory granule (IDA)

Molecular Function

G protein-coupled peptide receptor activity (IBA)

G protein-coupled receptor activity (IC,IEA)

growth factor binding (IBA,IPI)

growth hormone-releasing hormone receptor activity (IBA,IEA,IMP,ISO,NAS)

peptide hormone binding (IBA,IEA,IPI)

protein binding (IPI)

transmembrane signaling receptor activity (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Anterior pituitary hypoplasia (IAGP)

Autosomal recessive inheritance (IAGP)

Decreased response to growth hormone stimulation test (IAGP)

Decreased serum insulin-like growth factor 1 (IAGP)

Delayed skeletal maturation (IAGP)

Impaired growth-hormone response to insulin stimulation test (IAGP)

Pleomorphic xanthoastrocytoma (IAGP)

Severe short stature (IAGP)

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

Genomics

Comparative Map Data

GHRHR
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	30,963,953 - 30,979,528 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	7	30,938,669 - 30,993,254 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	31,003,568 - 31,019,143 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	30,970,161 - 30,985,668 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	30,776,875 - 30,788,828	NCBI
Celera	7	30,992,840 - 31,008,351 (+)	NCBI		Celera
Cytogenetic Map	7	p14.3	NCBI
HuRef	7	30,885,854 - 30,901,378 (+)	NCBI		HuRef
CHM1_1	7	31,003,564 - 31,019,092 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	7	31,101,596 - 31,117,172 (+)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	31,053,140 - 31,068,651 (+)	NCBI

Ghrhr
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	55,353,204 - 55,365,515 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	55,353,280 - 55,365,515 (+)	Ensembl		GRCm39 Ensembl
GRCm38	6	55,376,295 - 55,388,530 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	55,376,295 - 55,388,530 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	55,326,289 - 55,338,524 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	55,305,940 - 55,317,897 (+)	NCBI		MGSCv36	mm8
Celera	6	55,910,067 - 55,922,286 (+)	NCBI		Celera
Cytogenetic Map	6	B3	NCBI
cM Map	6	27.38	NCBI

Ghrhr
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	4	84,498,159 - 84,532,847 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	84,500,212 - 84,532,776 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	89,718,589 - 89,754,998 (+)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	4	85,493,999 - 85,530,402 (+)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	4	83,899,789 - 83,936,121 (+)	NCBI	Rnor_WKY
Rnor_6.0	4	85,587,321 - 85,602,389 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	85,588,595 - 85,601,666 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	150,221,064 - 150,253,706 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	84,135,530 - 84,148,503 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	84,421,996 - 84,434,974 (+)	NCBI
Celera	4	79,386,911 - 79,400,313 (+)	NCBI		Celera
Cytogenetic Map	4	q24	NCBI

Ghrhr
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955410	32,102,367 - 32,115,080 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955410	32,084,210 - 32,114,844 (+)	NCBI	ChiLan1.0	ChiLan1.0

GHRHR
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	7	31,701,641 - 31,712,200 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	7	31,696,914 - 31,712,200 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	7	31,582,134 - 31,592,914 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

GHRHR
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	14	43,626,862 - 43,638,737 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	14	43,626,845 - 43,638,753 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	14	43,059,230 - 43,070,721 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	14	43,567,602 - 43,579,114 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	14	43,567,473 - 43,579,402 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	14	43,683,226 - 43,694,708 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	14	43,359,784 - 43,371,271 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	14	43,721,032 - 43,732,545 (+)	NCBI		UU_Cfam_GSD_1.0

Ghrhr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	87,980,695 - 87,991,200 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936478	7,188,826 - 7,201,932 (+)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936478	7,188,826 - 7,202,854 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GHRHR
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	18	42,030,510 - 42,046,184 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	18	42,030,505 - 42,046,178 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	18	46,427,131 - 46,436,821 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GHRHR
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	21	27,402,765 - 27,417,536 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	21	27,404,886 - 27,417,521 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666042	77,286,895 - 77,301,754 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ghrhr
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624783	200,940 - 214,373 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624783	200,935 - 214,453 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in GHRHR
157 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
NG_021416.1:g.4925A>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	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	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
Single allele	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	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]	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	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	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	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\|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
Single allele	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]	Chr7:30972005 [GRCh38] Chr7:31011620 [GRCh37] Chr7:7p14.3	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
Single allele	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	Isolated growth hormone deficiency type IB [RCV001162866]\|not provided [RCV002032501]	Chr7:30971988 [GRCh38] Chr7:31011603 [GRCh37] Chr7:7p14.3	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	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	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	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]	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	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	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_Val293=)	single nucleotide variant	not provided [RCV003116949]	Chr7:30975034 [GRCh38] Chr7:31014649 [GRCh37] Chr7:7p14.3	likely benign
NC_000007.13:g.31009480_31009481insG	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_Glu72=)	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	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_Pro359=)	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_Ile340=)	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_Trp101=)	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_Phe333=)	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_Cys78=)	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_Phe169=)	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_Ala68=)	single nucleotide variant	not provided [RCV003087732]	Chr7:30969103 [GRCh38] Chr7:31008718 [GRCh37] Chr7:7p14.3	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_Gly136=)	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_Asp95=)	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_Trp59=)	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	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

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 Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,002,456 - 31,002,649	UniSTS	GRCh37
Build 36	7	30,968,981 - 30,969,174	RGD	NCBI36
Celera	7	30,991,660 - 30,991,853	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,884,674 - 30,884,867	UniSTS
CRA_TCAGchr7v2	7	31,051,960 - 31,052,153	UniSTS

G68148

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,003,621 - 31,003,927	UniSTS	GRCh37
Build 36	7	30,970,146 - 30,970,452	RGD	NCBI36
Celera	7	30,992,825 - 30,993,131	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,885,839 - 30,886,145	UniSTS
CRA_TCAGchr7v2	7	31,053,125 - 31,053,431	UniSTS

G68145

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,009,399 - 31,009,711	UniSTS	GRCh37
Build 36	7	30,975,924 - 30,976,236	RGD	NCBI36
Celera	7	30,998,604 - 30,998,916	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,891,631 - 30,891,943	UniSTS
CRA_TCAGchr7v2	7	31,058,904 - 31,059,216	UniSTS

GHRHR_8370

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,018,744 - 31,019,299	UniSTS	GRCh37
Build 36	7	30,985,269 - 30,985,824	RGD	NCBI36
Celera	7	31,007,949 - 31,008,504	RGD
HuRef	7	30,900,976 - 30,901,531	UniSTS
CRA_TCAGchr7v2	7	31,068,249 - 31,068,804	UniSTS

GHRHR

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,018,874 - 31,019,132	UniSTS	GRCh37
Build 36	7	30,985,399 - 30,985,657	RGD	NCBI36
Celera	7	31,008,079 - 31,008,337	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,901,106 - 30,901,364	UniSTS
CRA_TCAGchr7v2	7	31,068,379 - 31,068,637	UniSTS

WI-7721

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,018,861 - 31,019,137	UniSTS	GRCh37
Build 36	7	30,985,386 - 30,985,662	RGD	NCBI36
Celera	7	31,008,066 - 31,008,342	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,901,093 - 30,901,369	UniSTS
CRA_TCAGchr7v2	7	31,068,366 - 31,068,642	UniSTS
TNG Radiation Hybrid Map	7	14631.0	UniSTS
GeneMap99-GB4 RH Map	7	140.13	UniSTS
Whitehead-RH Map	7	99.2	UniSTS
NCBI RH Map	7	461.8	UniSTS

SHGC-35683

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,015,531 - 31,015,755	UniSTS	GRCh37
Build 36	7	30,982,056 - 30,982,280	RGD	NCBI36
Celera	7	31,004,736 - 31,004,960	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,897,763 - 30,897,987	UniSTS
CRA_TCAGchr7v2	7	31,065,036 - 31,065,260	UniSTS
TNG Radiation Hybrid Map	7	14625.0	UniSTS
Stanford-G3 RH Map	7	1275.0	UniSTS
GeneMap99-GB4 RH Map	7	140.02	UniSTS
Whitehead-RH Map	7	94.3	UniSTS
NCBI RH Map	7	461.8	UniSTS
GeneMap99-G3 RH Map	7	1275.0	UniSTS

G68168

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,013,549 - 31,014,137	UniSTS	GRCh37
Build 36	7	30,980,074 - 30,980,662	RGD	NCBI36
Celera	7	31,002,754 - 31,003,342	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,895,781 - 30,896,369	UniSTS
CRA_TCAGchr7v2	7	31,063,054 - 31,063,642	UniSTS

G68169

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,014,476 - 31,014,793	UniSTS	GRCh37
Build 36	7	30,981,001 - 30,981,318	RGD	NCBI36
Celera	7	31,003,681 - 31,003,998	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,896,708 - 30,897,025	UniSTS
CRA_TCAGchr7v2	7	31,063,981 - 31,064,298	UniSTS

G68170

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,015,221 - 31,015,550	UniSTS	GRCh37
Build 36	7	30,981,746 - 30,982,075	RGD	NCBI36
Celera	7	31,004,426 - 31,004,755	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,897,453 - 30,897,782	UniSTS
CRA_TCAGchr7v2	7	31,064,726 - 31,065,055	UniSTS

G68171

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,015,890 - 31,016,281	UniSTS	GRCh37
Build 36	7	30,982,415 - 30,982,806	RGD	NCBI36
Celera	7	31,005,095 - 31,005,486	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,898,122 - 30,898,513	UniSTS
CRA_TCAGchr7v2	7	31,065,395 - 31,065,786	UniSTS

G68172

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,016,813 - 31,017,144	UniSTS	GRCh37
Build 36	7	30,983,338 - 30,983,669	RGD	NCBI36
Celera	7	31,006,018 - 31,006,349	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,899,045 - 30,899,376	UniSTS
CRA_TCAGchr7v2	7	31,066,318 - 31,066,649	UniSTS

G68173

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,018,662 - 31,019,022	UniSTS	GRCh37
Build 36	7	30,985,187 - 30,985,547	RGD	NCBI36
Celera	7	31,007,867 - 31,008,227	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,900,894 - 30,901,254	UniSTS
CRA_TCAGchr7v2	7	31,068,167 - 31,068,527	UniSTS

G68174

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,008,396 - 31,008,873	UniSTS	GRCh37
Build 36	7	30,974,921 - 30,975,398	RGD	NCBI36
Celera	7	30,997,601 - 30,998,078	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,890,628 - 30,891,105	UniSTS
CRA_TCAGchr7v2	7	31,057,901 - 31,058,378	UniSTS

G68166

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,010,548 - 31,010,969	UniSTS	GRCh37
Build 36	7	30,977,073 - 30,977,494	RGD	NCBI36
Celera	7	30,999,753 - 31,000,174	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,892,780 - 30,893,201	UniSTS
CRA_TCAGchr7v2	7	31,060,053 - 31,060,474	UniSTS

G68167

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	31,011,362 - 31,011,768	UniSTS	GRCh37
Build 36	7	30,977,887 - 30,978,293	RGD	NCBI36
Celera	7	31,000,567 - 31,000,973	RGD
Cytogenetic Map	7	p14	UniSTS
HuRef	7	30,893,594 - 30,894,000	UniSTS
CRA_TCAGchr7v2	7	31,060,867 - 31,061,273	UniSTS

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

Medium

270

265

Low

128

198

184

161

120

Below cutoff

1696

1839

872

346

781

231

2445

1242

3023

203

907

1009

116

830

1662

View RNA-SEQ Expression Data

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

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	30,963,953 - 30,979,528 (+)	Ensembl

RefSeq Acc Id:

ENST00000337750 ⟹ ENSP00000338184

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	30,969,533 - 30,979,532 (+)	Ensembl

RefSeq Acc Id:

ENST00000396227 ⟹ ENSP00000379529

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	30,969,533 - 30,979,519 (+)	Ensembl

RefSeq Acc Id:

ENST00000409316 ⟹ ENSP00000386602

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	30,969,533 - 30,979,528 (+)	Ensembl

RefSeq Acc Id:

ENST00000409904 ⟹ ENSP00000387113

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	30,969,533 - 30,979,519 (+)	Ensembl

RefSeq Acc Id:

ENST00000461390

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	30,972,031 - 30,975,977 (+)	Ensembl

RefSeq Acc Id:

ENST00000461424

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	30,971,969 - 30,985,216 (+)	Ensembl

RefSeq Acc Id:

ENST00000463164

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	30,976,429 - 30,979,531 (+)	Ensembl

RefSeq Acc Id:

ENST00000466427

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	30,938,669 - 30,968,879 (+)	Ensembl

RefSeq Acc Id:

ENST00000473133

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	30,984,081 - 30,993,254 (+)	Ensembl

RefSeq Acc Id:

ENST00000489974

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	30,970,980 - 30,974,138 (+)	Ensembl

RefSeq Acc Id:

ENST00000611037 ⟹ ENSP00000480159

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	30,971,969 - 30,984,360 (+)	Ensembl

RefSeq Acc Id:

NM_000823 ⟹ NP_000814

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	30,963,953 - 30,979,528 (+)	NCBI
GRCh37	7	31,003,636 - 31,019,146 (+)	ENTREZGENE
Build 36	7	30,970,161 - 30,985,668 (+)	NCBI Archive
HuRef	7	30,885,854 - 30,901,378 (+)	ENTREZGENE
CHM1_1	7	31,003,564 - 31,019,092 (+)	NCBI
T2T-CHM13v2.0	7	31,101,596 - 31,117,172 (+)	NCBI
CRA_TCAGchr7v2	7	31,053,140 - 31,068,651 (+)	ENTREZGENE

Sequence:

show sequence

ACCTGAGAAGGGGAAGCAGAGGGTGCGGTGGAAACGGCTGTGTCAGGGGACAGCAGGGGAAGGA
AGATAGCCAAGGCTTACTGAGGCTGGTGGAGGGAGCCACTGCTGGGCTCACCATGGACCGCCGG
ATGTGGGGGGCCCACGTCTTCTGCGTGTTGAGCCCGTTACCGACCGTATTGGGCCACATGCACC
CAGAATGTGACTTCATCACCCAGCTGAGAGAGGATGAGAGTGCCTGTCTACAAGCAGCAGAGGA
GATGCCCAACACCACCCTGGGCTGCCCTGCGACCTGGGATGGGCTGCTGTGCTGGCCAACGGCA
GGCTCTGGCGAGTGGGTCACCCTCCCCTGCCCGGATTTCTTCTCTCACTTCAGCTCAGAGTCAG
GGGCTGTGAAACGGGATTGTACTATCACTGGCTGGTCTGAGCCCTTTCCACCTTACCCTGTGGC
CTGCCCTGTGCCTCTGGAGCTGCTGGCTGAGGAGGAATCTTACTTCTCCACAGTGAAGATTATC
TACACCGTGGGCCATAGCATCTCTATTGTAGCCCTCTTCGTGGCCATCACCATCCTGGTTGCTC
TCAGGAGGCTCCACTGCCCCCGGAACTACGTCCACACCCAGCTGTTCACCACTTTTATCCTCAA
GGCGGGAGCTGTGTTCCTGAAGGATGCTGCCCTTTTCCACAGCGACGACACTGACCACTGCAGC
TTCTCCACTGTTCTATGCAAGGTCTCTGTGGCCGCCTCCCATTTCGCCACCATGACCAACTTCA
GCTGGCTGTTGGCAGAAGCCGTCTACCTGAACTGCCTCCTGGCCTCCACCTCCCCCAGCTCAAG
GAGAGCCTTCTGGTGGCTGGTTCTCGCTGGCTGGGGGCTGCCCGTGCTCTTCACTGGCACGTGG
GTGAGCTGCAAACTGGCCTTCGAGGACATCGCGTGCTGGGACCTGGACGACACCTCCCCCTACT
GGTGGATCATCAAAGGGCCCATTGTCCTCTCGGTCGGGGTGAACTTTGGGCTTTTTCTCAATAT
TATCCGCATCCTGGTGAGGAAACTGGAGCCAGCTCAGGGCAGCCTCCATACCCAGTCTCAGTAT
TGGCGTCTCTCCAAGTCGACACTTTTCCTGATCCCACTCTTTGGAATTCACTACATCATCTTCA
ACTTCCTGCCAGACAATGCTGGCCTGGGCATCCGCCTCCCCCTGGAGCTGGGACTGGGTTCCTT
CCAGGGCTTCATTGTTGCCATCCTCTACTGCTTCCTCAACCAAGAGGTGAGGACTGAGATCTCA
CGGAAGTGGCATGGCCATGACCCTGAGCTTCTGCCAGCCTGGAGGACCCGTGCTAAGTGGACCA
CGCCTTCCCGCTCGGCGGCAAAGGTGCTGACATCTATGTGCTAGGCTGCCTCATCACGCCACTG
GAGTCCACACTTGAATTTGGGCAGCTACCACGGGTCTGCCATGCTCTGGAGGAGCAAGGGGGCC
ACATCCCCACCCCAGCTGTTACCCAGCCCGGGGCAGGTGCAGCCCTTCCTCCCTGTCTCTGCAT
CTGACTCTCTTTTGAGGTCCCTGTATGTCTACCTCTGACTTCTGTGGTCCCTCTGTGTCTGCTC
TCATCCATTCCTCTTACTGGGGCCTGGGGCTCTAGCCCAAGGCTCAGAGGAGCCAATAAACCTG
TAAATGAA

hide 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
	Q02643	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_000814 ⟸ NM_000823
- Peptide Label:	precursor
- UniProtKB:	Q99863 (UniProtKB/Swiss-Prot), Q02643 (UniProtKB/Swiss-Prot), A0A090N8Y6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWDGLLC WPTAGSGEWVTLPCPDFFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLAEEESYFST VKIIYTVGHSISIVALFVAITILVALRRLHCPRNYVHTQLFTTFILKAGAVFLKDAALFHSDDT DHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRRAFWWLVLAGWGLPVLF TGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHT QSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVR TEISRKWHGHDPELLPAWRTRAKWTTPSRSAAKVLTSMC hide 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 Assembly	Chr	Position (strand)	Source
Build 36	7	30,989,721 - 30,990,221 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:4266	AgrOrtholog
COSMIC	GHRHR	COSMIC
Ensembl Genes	ENSG00000106128	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000320180	ENTREZGENE
	ENSP00000320180.2	UniProtKB/Swiss-Prot
	ENSP00000338184.4	UniProtKB/TrEMBL
	ENSP00000379529.2	UniProtKB/TrEMBL
	ENSP00000386602.1	UniProtKB/TrEMBL
	ENSP00000387113.3	UniProtKB/TrEMBL
	ENSP00000480159.1	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
	618157	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_HUMAN	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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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