GH1 (growth hormone 1) - Rat Genome Database

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Gene: GH1 (growth hormone 1) Homo sapiens
Analyze
Symbol: GH1
Name: growth hormone 1
RGD ID: 69101
HGNC Page HGNC:4261
Description: Enables signaling receptor binding activity. Involved in several processes, including bone maturation; cell surface receptor signaling pathway; and positive regulation of signal transduction. Acts upstream of or within positive regulation of D-glucose transmembrane transport. Located in collagen-containing extracellular matrix. Part of growth hormone receptor complex. Is active in extracellular space. Implicated in several diseases, including anemia (multiple); autoimmune disease of endocrine system (multiple); diabetic retinopathy; isolated growth hormone deficiency (multiple); and progeria. Biomarker of diabetes insipidus; diabetes mellitus (multiple); osteoarthritis; and severe acute respiratory syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GH; GH-N; GHB5; GHN; growth hormone B5; hGH-N; IGHD1A; IGHD1B; IGHD2; pituitary growth hormone; somatotropin
RGD Orthologs
Mouse
Rat
Bonobo
Squirrel
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381763,917,203 - 63,918,839 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1763,917,200 - 63,918,839 (-)EnsemblGRCh38hg38GRCh38
GRCh371761,994,563 - 61,996,199 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361759,348,295 - 59,349,930 (-)NCBINCBI36Build 36hg18NCBI36
Build 341759,348,294 - 59,349,930NCBI
Celera1756,382,602 - 56,384,237 (-)NCBICelera
Cytogenetic Map17q23.3NCBI
HuRef1757,362,255 - 57,363,890 (-)NCBIHuRef
CHM1_11762,058,482 - 62,060,117 (-)NCBICHM1_1
T2T-CHM13v2.01764,787,962 - 64,789,598 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-amphetamine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,2-trifluoroethanol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxybutyric acid  (EXP)
4-nonylphenol  (ISO)
4-octylphenol  (ISO)
4-tert-Octylphenol  (ISO)
7,12-dimethyltetraphene  (ISO)
9-cis-retinoic acid  (ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (ISO)
all-trans-retinol  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
apomorphine  (EXP)
arsenous acid  (EXP,ISO)
ATP  (EXP,ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzoates  (ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (ISO)
bromocriptine  (EXP)
butan-1-ol  (EXP)
butan-2-ol  (EXP)
butyric acid  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
calcitriol  (ISO)
capsaicin  (ISO)
carbamazepine  (ISO)
CGP 12177  (ISO)
chlormequat chloride  (ISO)
chromium(6+)  (ISO)
clonidine  (EXP,ISO)
clonidine (amino form)  (EXP,ISO)
clonidine (imino form)  (EXP,ISO)
cocaine  (EXP,ISO)
colforsin daropate hydrochloride  (EXP,ISO)
corticotropin  (EXP)
cortisol  (EXP)
cypermethrin  (ISO)
cyproheptadine  (EXP)
D-glucose  (EXP)
dehydroepiandrosterone  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP,ISO)
disulfiram  (ISO)
dobutamine  (ISO)
doxorubicin  (ISO)
enalapril  (EXP)
endosulfan  (ISO)
estriol  (ISO)
ethanol  (EXP)
ethylbenzene  (ISO)
ethylene glycol  (EXP)
ethylenediaminetetraacetic acid  (ISO)
fenvalerate  (ISO)
formaldehyde  (ISO)
fulvestrant  (ISO)
glucose  (EXP)
Guanfacine  (EXP)
homocysteine  (EXP)
hydrogen sulfide  (ISO)
idazoxan  (ISO)
ionomycin  (EXP)
L-ascorbic acid  (ISO)
lead nitrate  (ISO)
levonorgestrel  (EXP)
lipopolysaccharide  (ISO)
lisinopril dihydrate  (ISO)
maneb  (ISO)
mephenytoin  (EXP)
monosodium L-glutamate  (ISO)
morphine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-methyl-N-nitrosourea  (ISO)
naproxen  (ISO)
nicotinic acid  (EXP)
Nivalenol  (ISO)
octreotide  (EXP,ISO)
p-tert-Amylphenol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
pentetic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
permethrin  (ISO)
phenobarbital  (ISO)
phenylarsine oxide  (EXP,ISO)
pioglitazone  (EXP)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
progesterone  (EXP,ISO)
propan-1-ol  (EXP)
propan-2-ol  (EXP)
propane-1,2-diol  (EXP)
pyridoxal 5'-phosphate  (ISO)
raloxifene  (EXP)
resveratrol  (ISO)
SB 203580  (ISO)
sirtinol  (ISO)
sodium atom  (EXP,ISO)
sulpiride  (ISO)
sumatriptan  (ISO)
T-2 toxin  (ISO)
tamoxifen  (ISO)
tert-butanol  (EXP)
testosterone  (EXP,ISO)
thimerosal  (ISO)
thioacetamide  (ISO)
thyroxine  (EXP,ISO)
titanium dioxide  (ISO)
triptonide  (ISO)
urethane  (ISO)
valproic acid  (EXP)
zinc atom  (EXP,ISO)
zinc sulfate  (ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Recombinant human growth hormone treatment in children with thalassemia major. Arcasoy A, etal., Pediatr Int. 1999 Dec;41(6):655-61.
2. Evaluation of anterior pituitary function in patients with posttraumatic diabetes insipidus. Barreca T, etal., J Clin Endocrinol Metab. 1980 Dec;51(6):1279-82.
3. Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). Besson A, etal., J Clin Endocrinol Metab. 2005 May;90(5):2493-9. Epub 2005 Feb 15.
4. Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency. Birla S, etal., Growth Horm IGF Res. 2016 Aug;29:50-6. doi: 10.1016/j.ghir.2016.04.001. Epub 2016 Apr 16.
5. Diabetic bone disease. Low turnover osteoporosis related to decreased IGF-I production. Bouillon R Verh K Acad Geneeskd Belg. 1992;54(4):365-91; discussion 391-2.
6. Cytoprotection by melatonin and growth hormone in early rat myocardial infarction as revealed by Feulgen DNA staining. Castagnino HE, etal., Neuro Endocrinol Lett. 2002 Oct-Dec;23(5-6):391-5.
7. Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. Cocco C, etal., Autoimmunity. 2012 Sep;45(6):485-94. doi: 10.3109/08916934.2012.680632. Epub 2012 May 18.
8. Effects of physical training on serum and pituitary growth hormone contents in diabetic rats. de Almeida Leme JA, etal., Pituitary. 2009;12(4):304-8. Epub 2009 Apr 16.
9. Dynamics of growth hormone secretion in patients with osteoporosis and in patients with osteoarthrosis. Dequeker J, etal., Horm Res. 1982;16(6):353-6.
10. Effects of chronic growth hormone and insulin-like growth factor 1 deficiency on osteoarthritis severity in rat knee joints. Ekenstedt KJ, etal., Arthritis Rheum. 2006 Dec;54(12):3850-8.
11. Dominant dwarfism in transgenic rats by targeting human growth hormone (GH) expression to hypothalamic GH-releasing factor neurons. Flavell DM, etal., EMBO J. 1996 Aug 1;15(15):3871-9.
12. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
13. [Experimental and clinical studies of recombinant human growth hormone treatement of hypoproteinemia of liver cirrhosis patients]. Guo X, etal., Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi. 2001 Dec;15(4):339-41.
14. Effects of recombinant human growth hormone (r-hGH) on experimental osteoporotic fracture healing. Hao Y, etal., Chin J Traumatol. 2001 May;4(2):102-5.
15. Growth hormone and somatomedin in insulin-dependent diabetes mellitus. Horner JM, etal., J Clin Endocrinol Metab. 1981 Dec;53(6):1148-53.
16. Growth hormone improves short stature in children with Diamond-Blackfan anemia. Howell JC, etal., Pediatr Blood Cancer. 2015 Mar;62(3):402-8. doi: 10.1002/pbc.25341. Epub 2014 Dec 9.
17. Growth hormone response following growth hormone releasing hormone injection in thalassemia major: influence of pubertal development. Leheup BP, etal., J Endocrinol Invest. 1991 Jan;14(1):37-40.
18. [Effect of recombinant human growth hormone on hypoalbuminemia in peritoneal sepsis: experimental and clinical research]. Li W, etal., Zhonghua Yi Xue Za Zhi. 1998 Jun;78(6):413-5.
19. Effect of growth hormone-releasing stimuli in streptozotocin diabetic rats. Locatelli V, etal., Brain Res. 1985 Aug 19;341(1):35-40.
20. High levels of growth hormone and human placental lactogen in pregnancy complicated by diabetes. Lopez-Espinoza I, etal., Diabetes Res. 1986 Mar;3(3):119-25.
21. A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD). Madeira JL, etal., Eur J Endocrinol. 2016 Aug;175(2):K7-K15. doi: 10.1530/EJE-15-0149. Epub 2016 Jun 1.
22. Insulin-like growth factor 1 treatment extends longevity in a mouse model of human premature aging by restoring somatotroph axis function. Marino G, etal., Proc Natl Acad Sci U S A. 2010 Sep 14;107(37):16268-73. doi: 10.1073/pnas.1002696107. Epub 2010 Aug 30.
23. Suppressed spontaneous secretion of growth hormone in girls after treatment for acute lymphoblastic leukaemia. Moell C, etal., Arch Dis Child. 1989 Feb;64(2):252-8.
24. Isolated growth hormone deficiency in Chilean patients: clinical and molecular analysis. Molina G, etal., J Pediatr Endocrinol Metab. 2003 Oct-Nov;16(8):1143-55.
25. Growth hormone kinetics in diabetic patients. Navalesi R, etal., Diabetes. 1975 Apr;24(4):317-27.
26. Studies on prolactin and growth hormone gene expression in the pituitary gland of spontaneous dwarf rats. Nogami H, etal., Endocrinology. 1989 Aug;125(2):964-70.
27. Expression of insulin-like growth factor I messenger ribonucleic acid in developing osteophytes in murine experimental osteoarthritis and in rats inoculated with growth hormone-secreting tumor. Okazaki K, etal., Endocrinology. 1999 Oct;140(10):4821-30.
28. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
29. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
30. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
31. Retinal laser photocoagulation in diabetic patients causes prolactin, growth hormone and cortisol release. Pontiroli AE, etal., J Endocrinol Invest. 1988 May;11(5):389-91.
32. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
33. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
34. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
35. Rat mammary carcinoma regressions during suppression of serum growth hormone and prolactin. Rose DP, etal., Anticancer Res. 1983 Sep-Oct;3(5):323-5.
36. Effect of recombinant human growth hormone on peripheral nerve regeneration: experimental work on the ulnar nerve of the rat. Saceda J, etal., Neurosci Lett. 2011 Oct 24;504(2):146-50. doi: 10.1016/j.neulet.2011.09.020. Epub 2011 Sep 17.
37. Growth hormone attenuates skeletal muscle changes in experimental chronic heart failure. Santos DP, etal., Growth Horm IGF Res. 2010 Apr;20(2):149-55. doi: 10.1016/j.ghir.2009.11.007. Epub 2010 Jan 8.
38. Growth hormone responsiveness in vivo and in vitro to growth hormone releasing factor in the spontaneously diabetic BB Wistar rat. Serri O and Brazeau P, Neuroendocrinology. 1987 Aug;46(2):162-6.
39. Advanced rat mammary cancers are growth hormone dependent. Shen Q, etal., Endocrinology. 2007 Oct;148(10):4536-44. Epub 2007 Jun 21.
40. Effect of long-term administration of recombinant human growth hormone (rhGH) on plasma erythropoietin (EPO) and haemoglobin levels in anaemic patients with adult GH deficiency. Sohmiya M and Kato Y, Clin Endocrinol (Oxf). 2001 Dec;55(6):749-54.
41. Effects of sericin on the testicular growth hormone/insulin-like growth factor-1 axis in a rat model of type 2 diabetes. Song CJ, etal., Int J Clin Exp Med. 2015 Jul 15;8(7):10411-9. eCollection 2015.
42. Biologically inactive growth hormone caused by an amino acid substitution. Takahashi Y, etal., J Clin Invest. 1997 Sep 1;100(5):1159-65.
43. Molecular mechanism of growth hormone (GH) deficiency in the spontaneous dwarf rat: detection of abnormal splicing of GH messenger ribonucleic acid by the polymerase chain reaction. Takeuchi T, etal., Endocrinology. 1990 Jan;126(1):31-8.
44. Changes in growth hormone (GH), GH receptor, and GH signal transduction in hippocampus of congenital hypothyroid rats. Tang H, etal., J Neurosci Res. 2011 Feb;89(2):248-55. doi: 10.1002/jnr.22540. Epub 2010 Dec 8.
45. Effects of intravenous TRH on growth hormone and cortisol serum levels in children and adolescents with insulin dependent diabetes mellitus. Vanelli M, etal., J Endocrinol Invest. 1986 Aug;9(4):293-7.
46. The exon-3 deleted growth hormone receptor polymorphism predisposes to long-term complications of acromegaly. Wassenaar MJ, etal., J Clin Endocrinol Metab. 2009 Dec;94(12):4671-8. doi: 10.1210/jc.2009-1172. Epub 2009 Oct 28.
47. Endocrine cells of the adenohypophysis in severe acute respiratory syndrome (SARS). Wei L, etal., Biochem Cell Biol. 2010 Aug;88(4):723-30. doi: 10.1139/O10-022.
48. Age-related cataract progression in five mouse models for anti-oxidant protection or hormonal influence. Wolf N, etal., Exp Eye Res. 2005 Sep;81(3):276-85.
49. Growth hormone reduces tissue damage in rat ovaries subjected to torsion and detorsion: biochemical and histopathologic evaluation. Yigiter M, etal., Eur J Obstet Gynecol Reprod Biol. 2011 Jul;157(1):94-100. doi: 10.1016/j.ejogrb.2011.02.012. Epub 2011 Mar 25.
50. Vitreous growth hormone and visual dysfunction. Ziaei M, etal., Neurosci Lett. 2009 Aug 21;460(1):87-91. Epub 2009 May 20.
Additional References at PubMed
PMID:377496   PMID:386281   PMID:1322425   PMID:1549776   PMID:1634529   PMID:1980158   PMID:2180927   PMID:2744760   PMID:2820841   PMID:2825030   PMID:3004851   PMID:3162714  
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PMID:22364960   PMID:22386777   PMID:22431516   PMID:22465725   PMID:22524398   PMID:22664570   PMID:22669946   PMID:22672824   PMID:22833680   PMID:22952901   PMID:22972178   PMID:23178941  
PMID:23182822   PMID:23182825   PMID:23208451   PMID:23238889   PMID:23281720   PMID:23417163   PMID:23419423   PMID:23428872   PMID:23438236   PMID:23452315   PMID:23567159   PMID:23640965  
PMID:23700319   PMID:23702397   PMID:23736291   PMID:23782942   PMID:23785020   PMID:23789946   PMID:23822620   PMID:23824909   PMID:23864592   PMID:24109593   PMID:24134847   PMID:24280222  
PMID:24280736   PMID:24363451   PMID:24464925   PMID:24549831   PMID:24635352   PMID:24642386   PMID:24804205   PMID:24889799   PMID:24972779   PMID:25015810   PMID:25079463   PMID:25103549  
PMID:25116472   PMID:25179796   PMID:25241616   PMID:25295535   PMID:25411237   PMID:25656053   PMID:25662214   PMID:25782001   PMID:25873390   PMID:26202070   PMID:26225688   PMID:26256649  
PMID:26485222   PMID:26522057   PMID:26697363   PMID:26862561   PMID:26915772   PMID:27060213   PMID:27075707   PMID:27150070   PMID:27151213   PMID:27214308   PMID:27226307   PMID:27477018  
PMID:27542624   PMID:27802441   PMID:27878771   PMID:27932301   PMID:28130121   PMID:28327460   PMID:28427901   PMID:28444169   PMID:28514442   PMID:28525353   PMID:28529277   PMID:28616920  
PMID:28617312   PMID:28631895   PMID:28700563   PMID:28910730   PMID:29179911   PMID:29563501   PMID:30325658   PMID:30531700   PMID:30576246   PMID:30804268   PMID:31133697   PMID:31189758  
PMID:31279174   PMID:31287951   PMID:31835104   PMID:32106092   PMID:32218464   PMID:32338337   PMID:32601398   PMID:33122102   PMID:33419306   PMID:33687272   PMID:33799503   PMID:33879807  
PMID:33952498   PMID:33961781   PMID:34126247   PMID:34375817   PMID:34440302   PMID:35172328   PMID:35305249   PMID:35678263   PMID:35750929   PMID:36233301   PMID:36327147   PMID:36446319  
PMID:36524723   PMID:36877453   PMID:37104943   PMID:37246615   PMID:37283510   PMID:37315542   PMID:37428642   PMID:37468264   PMID:37595266   PMID:37606202   PMID:37759746   PMID:37816478  
PMID:37872346   PMID:37877767   PMID:37895086   PMID:37936007   PMID:37962050   PMID:38446190   PMID:39435354  


Genomics

Comparative Map Data
GH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381763,917,203 - 63,918,839 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1763,917,200 - 63,918,839 (-)EnsemblGRCh38hg38GRCh38
GRCh371761,994,563 - 61,996,199 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361759,348,295 - 59,349,930 (-)NCBINCBI36Build 36hg18NCBI36
Build 341759,348,294 - 59,349,930NCBI
Celera1756,382,602 - 56,384,237 (-)NCBICelera
Cytogenetic Map17q23.3NCBI
HuRef1757,362,255 - 57,363,890 (-)NCBIHuRef
CHM1_11762,058,482 - 62,060,117 (-)NCBICHM1_1
T2T-CHM13v2.01764,787,962 - 64,789,598 (-)NCBIT2T-CHM13v2.0
Gh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911106,191,087 - 106,194,529 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11106,191,097 - 106,192,691 (-)EnsemblGRCm39 Ensembl
GRCm3811106,300,261 - 106,303,703 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11106,300,271 - 106,301,865 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711106,161,582 - 106,163,124 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611106,116,358 - 106,117,900 (-)NCBIMGSCv36mm8
Celera11118,030,755 - 118,032,297 (-)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1168.89NCBI
Gh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81091,727,883 - 91,729,860 (-)NCBIGRCr8
mRatBN7.21091,228,102 - 91,230,079 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1091,228,103 - 91,230,078 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1096,282,748 - 96,284,726 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01095,745,913 - 95,747,891 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01091,156,493 - 91,158,471 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01094,486,204 - 94,488,181 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1094,486,205 - 94,488,180 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01094,237,414 - 94,239,391 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41095,692,240 - 95,694,117 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11095,708,476 - 95,710,261 (-)NCBI
Celera1089,903,834 - 89,905,811 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
LOC100971425
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21980,100,098 - 80,103,160 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11784,920,431 - 84,923,465 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01758,010,848 - 58,013,421 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11763,103,339 - 63,105,719 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1763,103,332 - 63,105,067 (-)Ensemblpanpan1.1panPan2
LOC101969021
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560214,668,568 - 14,670,240 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365414,524,397 - 4,528,234 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0

Variants

.
Variants in GH1
139 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000515.5(GH1):c.245_246del (p.Glu82fs) microsatellite Ateleiotic dwarfism [RCV000017332] Chr17:63918062..63918063 [GRCh38]
Chr17:61995422..61995423 [GRCh37]
Chr17:17q23.3		 pathogenic
GH1, 6.7-KB DEL deletion Ateleiotic dwarfism [RCV000017334] Chr17:17q22-q24 pathogenic
NM_000515.5(GH1):c.52del (p.Leu18fs) deletion Ateleiotic dwarfism [RCV000017335] Chr17:63918465 [GRCh38]
Chr17:61995825 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.456+1G>C single nucleotide variant Ateleiotic dwarfism [RCV003989292]|Isolated growth hormone deficiency type IB [RCV000017336] Chr17:63917759 [GRCh38]
Chr17:61995119 [GRCh37]
Chr17:17q23.3		 pathogenic|uncertain significance
NM_000515.5(GH1):c.456+1G>T single nucleotide variant Isolated growth hormone deficiency type IB [RCV000017337] Chr17:63917759 [GRCh38]
Chr17:61995119 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.291+6T>C single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017338] Chr17:63918011 [GRCh38]
Chr17:61995371 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.291+1G>A single nucleotide variant Ateleiotic dwarfism [RCV002504799]|Autosomal dominant isolated somatotropin deficiency [RCV000017340]|Inborn genetic diseases [RCV004629142]|not provided [RCV001557907] Chr17:63918016 [GRCh38]
Chr17:61995376 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.291+1G>C single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017341] Chr17:63918016 [GRCh38]
Chr17:61995376 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.291+28G>A single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017342] Chr17:63917989 [GRCh38]
Chr17:61995349 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.291+29_291+46del deletion Autosomal dominant isolated somatotropin deficiency [RCV000017343] Chr17:63917971..63917988 [GRCh38]
Chr17:61995331..61995348 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.291+5G>A single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017345]|Idiopathic growth hormone deficiency [RCV004700243] Chr17:63918012 [GRCh38]
Chr17:61995372 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.456+5G>C single nucleotide variant Isolated growth hormone deficiency type IB [RCV000017346] Chr17:63917755 [GRCh38]
Chr17:61995115 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.176A>G (p.Glu59Gly) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017347] Chr17:63918132 [GRCh38]
Chr17:61995492 [GRCh37]
Chr17:17q23.3		 pathogenic
GH1, EX3DEL single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017348] Chr17:17q22-q24 pathogenic
NM_000515.5(GH1):c.172-2A>T single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017349] Chr17:63918138 [GRCh38]
Chr17:61995498 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.291+2T>C single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017350]|not provided [RCV000711802] Chr17:63918015 [GRCh38]
Chr17:61995375 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.292-37_292-16del deletion Autosomal dominant isolated somatotropin deficiency [RCV000017352] Chr17:63917940..63917961 [GRCh38]
Chr17:61995300..61995321 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.173A>C (p.Glu58Ala) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017354] Chr17:63918135 [GRCh38]
Chr17:61995495 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.172G>A (p.Glu58Lys) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017355]|GH1-related disorder [RCV003894809] Chr17:63918136 [GRCh38]
Chr17:61995496 [GRCh37]
Chr17:17q23.3		 pathogenic|likely pathogenic
NM_000515.5(GH1):c.59G>A (p.Trp20Ter) single nucleotide variant Ateleiotic dwarfism [RCV000017333] Chr17:63918458 [GRCh38]
Chr17:61995818 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.307C>T (p.Arg103Cys) single nucleotide variant Short stature due to growth hormone qualitative anomaly [RCV000017339] Chr17:63917909 [GRCh38]
Chr17:61995269 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.413A>G (p.Asp138Gly) single nucleotide variant Short stature due to growth hormone qualitative anomaly [RCV000017344] Chr17:63917803 [GRCh38]
Chr17:61995163 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.236G>C (p.Cys79Ser) single nucleotide variant Short stature due to growth hormone qualitative anomaly [RCV000017351] Chr17:63918072 [GRCh38]
Chr17:61995432 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.626G>A (p.Arg209His) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017353]|not provided [RCV000992079] Chr17:63917337 [GRCh38]
Chr17:61994697 [GRCh37]
Chr17:17q23.3		 pathogenic|likely pathogenic
NM_000515.4(GH1):c.291+1G>C single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000029935] Chr17:63918016 [GRCh38]
Chr17:61995376 [GRCh37]
Chr17:17q23.3		 pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3 copy number gain See cases [RCV000052485] Chr17:59209629..64222315 [GRCh37]
Chr17:56564411..61652777 [NCBI36]
Chr17:17q23-24		 pathogenic
NM_000515.5(GH1):c.150C>A (p.Ala50=) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001122918]|GH1-related disorder [RCV003927606]|not provided [RCV000872442]|not specified [RCV000175614] Chr17:63918367 [GRCh38]
Chr17:61995727 [GRCh37]
Chr17:17q23.3		 benign|uncertain significance
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000990051]|Decreased response to growth hormone stimulation test [RCV001122917]|GH1-related disorder [RCV003927607]|not provided [RCV000872441]|not specified [RCV000175615] Chr17:63918365 [GRCh38]
Chr17:61995725 [GRCh37]
Chr17:17q23.3		 benign|likely benign
NM_000515.5(GH1):c.406G>A (p.Val136Ile) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001128609]|not provided [RCV000421927]|not specified [RCV000178109] Chr17:63917810 [GRCh38]
Chr17:63917810..63917811 [GRCh38]
Chr17:61995170 [GRCh37]
Chr17:61995170..61995171 [GRCh37]
Chr17:17q23.3		 benign|likely benign|uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NM_000515.5(GH1):c.387C>T (p.Tyr129=) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001128610]|not provided [RCV000178108] Chr17:63917829 [GRCh38]
Chr17:61995189 [GRCh37]
Chr17:17q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000515.5(GH1):c.370G>A (p.Ala124Thr) single nucleotide variant not provided [RCV000724303] Chr17:63917846 [GRCh38]
Chr17:61995206 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.116C>T (p.Ala39Val) single nucleotide variant Ateleiotic dwarfism [RCV002502119]|Decreased response to growth hormone stimulation test [RCV000363532]|GH1-related disorder [RCV003977771]|not provided [RCV000870866]|not specified [RCV000300522] Chr17:63918401 [GRCh38]
Chr17:61995761 [GRCh37]
Chr17:17q23.3		 benign|likely benign|uncertain significance
GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3 copy number gain See cases [RCV000240364] Chr17:56321134..62080001 [GRCh37]
Chr17:17q22-23.3		 pathogenic
NM_000515.5(GH1):c.-27G>T single nucleotide variant Decreased response to growth hormone stimulation test [RCV000265811] Chr17:63918803 [GRCh38]
Chr17:61996163 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.66A>G (p.Gln22=) single nucleotide variant Decreased response to growth hormone stimulation test [RCV000266675] Chr17:63918451 [GRCh38]
Chr17:61995811 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.127G>A (p.Ala43Thr) single nucleotide variant Decreased response to growth hormone stimulation test [RCV000306584]|not provided [RCV001358405] Chr17:63918390 [GRCh38]
Chr17:61995750 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.-4T>G single nucleotide variant Ateleiotic dwarfism [RCV000576459]|Decreased response to growth hormone stimulation test [RCV000357936]|GH1-related disorder [RCV003972379]|not provided [RCV001690076] Chr17:63918780 [GRCh38]
Chr17:61996140 [GRCh37]
Chr17:17q23.3		 benign|likely benign
NM_000515.5(GH1):c.547C>T (p.Leu183Phe) single nucleotide variant Inborn genetic diseases [RCV002521925]|not provided [RCV000303892] Chr17:63917416 [GRCh38]
Chr17:61994776 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.291+8G>T single nucleotide variant Decreased response to growth hormone stimulation test [RCV000364589] Chr17:63918009 [GRCh38]
Chr17:61995369 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.134G>A (p.Arg45His) single nucleotide variant Decreased response to growth hormone stimulation test [RCV000398141]|not provided [RCV003718191] Chr17:63918383 [GRCh38]
Chr17:61995743 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.16C>A (p.Arg6=) single nucleotide variant Decreased response to growth hormone stimulation test [RCV000324175]|Inborn genetic diseases [RCV003352835]|not provided [RCV000594351] Chr17:63918501 [GRCh38]
Chr17:61995861 [GRCh37]
Chr17:17q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000515.5(GH1):c.7A>G (p.Thr3Ala) single nucleotide variant Ateleiotic dwarfism [RCV000576669]|Decreased response to growth hormone stimulation test [RCV001126654]|not provided [RCV000864318]|not specified [RCV000354911] Chr17:63918770 [GRCh38]
Chr17:61996130 [GRCh37]
Chr17:17q23.3		 benign|likely benign
NM_000515.5(GH1):c.292-15G>A single nucleotide variant Decreased response to growth hormone stimulation test [RCV000312365] Chr17:63917939 [GRCh38]
Chr17:61995299 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.563T>C (p.Leu188Pro) single nucleotide variant Decreased response to growth hormone stimulation test [RCV000390799] Chr17:63917400 [GRCh38]
Chr17:61994760 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.478C>T (p.Arg160Trp) single nucleotide variant Decreased response to growth hormone stimulation test [RCV000294515]|not provided [RCV001850736] Chr17:63917485 [GRCh38]
Chr17:61994845 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.-60G>C single nucleotide variant Decreased response to growth hormone stimulation test [RCV000318527]|not provided [RCV001683307] Chr17:63918836 [GRCh38]
Chr17:61996196 [GRCh37]
Chr17:17q23.3		 benign|likely benign
NM_000515.5(GH1):c.456+12G>A single nucleotide variant Decreased response to growth hormone stimulation test [RCV000351723]|not provided [RCV002056621] Chr17:63917748 [GRCh38]
Chr17:61995108 [GRCh37]
Chr17:17q23.3		 benign|uncertain significance
NM_000515.5(GH1):c.363T>A (p.Ser121Arg) single nucleotide variant GH1-related disorder [RCV003955421]|not provided [RCV000870513]|not specified [RCV000336011] Chr17:63917853 [GRCh38]
Chr17:61995213 [GRCh37]
Chr17:17q23.3		 benign|likely benign
NM_000515.5(GH1):c.-63A>C single nucleotide variant Isolated congenital growth hormone deficiency [RCV000343147]|not provided [RCV001528037] Chr17:63918839 [GRCh38]
Chr17:61996199 [GRCh37]
Chr17:17q23.3		 benign|likely benign
NM_000515.5(GH1):c.7A>C (p.Thr3Pro) single nucleotide variant not provided [RCV000521816]|not specified [RCV003488653] Chr17:63918770 [GRCh38]
Chr17:61996130 [GRCh37]
Chr17:17q23.3		 likely benign|uncertain significance
NM_000515.4(GH1):c.-68A>G single nucleotide variant Isolated congenital growth hormone deficiency [RCV000399451]|not provided [RCV001595004] Chr17:63918844 [GRCh38]
Chr17:61996204 [GRCh37]
Chr17:17q23.3		 benign|likely benign
NM_000515.5(GH1):c.309C>T (p.Arg103=) single nucleotide variant Isolated congenital growth hormone deficiency [RCV000398146] Chr17:63917907 [GRCh38]
Chr17:61995267 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.-63A>T single nucleotide variant Isolated congenital growth hormone deficiency [RCV000302385]|not provided [RCV001707687] Chr17:63918839 [GRCh38]
Chr17:61996199 [GRCh37]
Chr17:17q23.3		 benign|likely benign
NM_000515.5(GH1):c.291+6T>G single nucleotide variant not provided [RCV000598671] Chr17:63918011 [GRCh38]
Chr17:61995371 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.597C>G (p.Val199=) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001123896]|not provided [RCV000735049]|not specified [RCV004586911] Chr17:63917366 [GRCh38]
Chr17:61994726 [GRCh37]
Chr17:17q23.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000515.5(GH1):c.15C>T (p.Ser5=) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001126653]|GH1-related disorder [RCV003955461]|not provided [RCV000731183] Chr17:63918502 [GRCh38]
Chr17:61995862 [GRCh37]
Chr17:17q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
NM_000515.5(GH1):c.217A>G (p.Asn73Asp) single nucleotide variant Ateleiotic dwarfism [RCV001262326]|not provided [RCV000734490] Chr17:63918091 [GRCh38]
Chr17:61995451 [GRCh37]
Chr17:17q23.3		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000515.5(GH1):c.615C>G (p.Ile205Met) single nucleotide variant not provided [RCV000594175]|not specified [RCV002509459] Chr17:63917348 [GRCh38]
Chr17:61994708 [GRCh37]
Chr17:17q23.3		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000515.5(GH1):c.456+18G>T single nucleotide variant not provided [RCV000711803] Chr17:63917742 [GRCh38]
Chr17:61995102 [GRCh37]
Chr17:17q23.3		 benign
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000515.5(GH1):c.379C>T (p.Leu127=) single nucleotide variant not provided [RCV000896438] Chr17:63917837 [GRCh38]
Chr17:61995197 [GRCh37]
Chr17:17q23.3		 likely benign
NC_000017.11:g.63918871del deletion not provided [RCV001644484] Chr17:63918869 [GRCh38]
Chr17:61996229 [GRCh37]
Chr17:17q23.3		 benign
GRCh37/hg19 17q23.2-24.2(chr17:59597348-64886364)x3 copy number gain not provided [RCV000752158] Chr17:59597348..64886364 [GRCh37]
Chr17:17q23.2-24.2		 pathogenic
NM_000515.5(GH1):c.447G>A (p.Thr149=) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001128608]|not provided [RCV000870671] Chr17:63917769 [GRCh38]
Chr17:61995129 [GRCh37]
Chr17:17q23.3		 benign|likely benign
NM_000515.5(GH1):c.450G>C (p.Leu150=) single nucleotide variant GH1-related disorder [RCV003920859]|not provided [RCV000898271] Chr17:63917766 [GRCh38]
Chr17:61995126 [GRCh37]
Chr17:17q23.3		 likely benign
GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) copy number gain not provided [RCV000767764] Chr17:57357088..66306668 [GRCh37]
Chr17:17q22-24.2		 pathogenic
NM_000515.5(GH1):c.171+10del deletion not provided [RCV000898488] Chr17:63918336 [GRCh38]
Chr17:61995696 [GRCh37]
Chr17:17q23.3		 likely benign
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 copy number gain not provided [RCV000845965] Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2		 pathogenic
NM_000515.5(GH1):c.363T>C (p.Ser121=) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001128611]|not provided [RCV003669194] Chr17:63917853 [GRCh38]
Chr17:61995213 [GRCh37]
Chr17:17q23.3		 likely benign|uncertain significance
NM_000515.5(GH1):c.457A>G (p.Arg153Gly) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001126548] Chr17:63917506 [GRCh38]
Chr17:61994866 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.-40C>T single nucleotide variant Decreased response to growth hormone stimulation test [RCV001126656] Chr17:63918816 [GRCh38]
Chr17:61996176 [GRCh37]
Chr17:17q23.3		 uncertain significance
NC_000017.11:g.63919116C>A single nucleotide variant not provided [RCV001720854] Chr17:63919116 [GRCh38]
Chr17:61996476 [GRCh37]
Chr17:17q23.3		 benign
NC_000017.11:g.63919146C>A single nucleotide variant not provided [RCV001679605] Chr17:63919146 [GRCh38]
Chr17:61996506 [GRCh37]
Chr17:17q23.3		 benign
NC_000017.11:g.63918913T>C single nucleotide variant not provided [RCV001640068] Chr17:63918913 [GRCh38]
Chr17:61996273 [GRCh37]
Chr17:17q23.3		 benign
NM_000515.5(GH1):c.546A>G (p.Leu182=) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001126544]|not provided [RCV000873250] Chr17:63917417 [GRCh38]
Chr17:61994777 [GRCh37]
Chr17:17q23.3		 likely benign|uncertain significance
NM_000515.5(GH1):c.559G>A (p.Gly187Arg) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001126543] Chr17:63917404 [GRCh38]
Chr17:61994764 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.246G>C (p.Glu82Asp) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001122914]|Isolated growth hormone deficiency type IB [RCV001332506] Chr17:63918062 [GRCh38]
Chr17:61995422 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.115G>A (p.Ala39Thr) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001123981] Chr17:63918402 [GRCh38]
Chr17:61995762 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.84A>G (p.Pro28=) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001123982] Chr17:63918433 [GRCh38]
Chr17:61995793 [GRCh37]
Chr17:17q23.3		 uncertain significance
NC_000017.11:g.63918895A>C single nucleotide variant not provided [RCV001720852] Chr17:63918895 [GRCh38]
Chr17:61996255 [GRCh37]
Chr17:17q23.3		 benign
NM_000515.5(GH1):c.171+6C>T single nucleotide variant Decreased response to growth hormone stimulation test [RCV001122915]|not provided [RCV003413929] Chr17:63918340 [GRCh38]
Chr17:61995700 [GRCh37]
Chr17:17q23.3		 likely benign|uncertain significance
NM_000515.5(GH1):c.561G>A (p.Gly187=) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001123897] Chr17:63917402 [GRCh38]
Chr17:61994762 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.55C>T (p.Pro19Ser) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001123983]|not provided [RCV001856634] Chr17:63918462 [GRCh38]
Chr17:61995822 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.352T>C (p.Phe118Leu) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001128612] Chr17:63917864 [GRCh38]
Chr17:61995224 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.350A>G (p.Gln117Arg) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001128613]|not specified [RCV003479281] Chr17:63917866 [GRCh38]
Chr17:61995226 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.328C>G (p.Gln110Glu) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001128614] Chr17:63917888 [GRCh38]
Chr17:61995248 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.535G>C (p.Asp179His) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001126545]|not provided [RCV001873511] Chr17:63917428 [GRCh38]
Chr17:61994788 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.470G>A (p.Gly157Asp) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001126546] Chr17:63917493 [GRCh38]
Chr17:61994853 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.-38A>C single nucleotide variant Decreased response to growth hormone stimulation test [RCV001126655]|not provided [RCV002269339] Chr17:63918814 [GRCh38]
Chr17:61996174 [GRCh37]
Chr17:17q23.3		 benign|likely benign
NM_000515.5(GH1):c.468T>C (p.Asp156=) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001126547]|not provided [RCV003425943] Chr17:63917495 [GRCh38]
Chr17:61994855 [GRCh37]
Chr17:17q23.3		 likely benign|uncertain significance
NM_000515.5(GH1):c.21G>A (p.Thr7=) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001123984] Chr17:63918496 [GRCh38]
Chr17:61995856 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.291+14T>G single nucleotide variant Decreased response to growth hormone stimulation test [RCV001122913] Chr17:63918003 [GRCh38]
Chr17:61995363 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.-47A>G single nucleotide variant Decreased response to growth hormone stimulation test [RCV001126657]|not provided [RCV002225796] Chr17:63918823 [GRCh38]
Chr17:61996183 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.164A>G (p.Gln55Arg) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001122916] Chr17:63918353 [GRCh38]
Chr17:61995713 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.124C>T (p.Arg42Cys) single nucleotide variant Decreased response to growth hormone stimulation test [RCV001123980]|not provided [RCV003727880]|not specified [RCV002249734] Chr17:63918393 [GRCh38]
Chr17:61995753 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.178G>A (p.Ala60Thr) single nucleotide variant not provided [RCV001311494] Chr17:63918130 [GRCh38]
Chr17:61995490 [GRCh37]
Chr17:17q23.3		 likely pathogenic
NM_000515.5(GH1):c.502A>T (p.Thr168Ser) single nucleotide variant Ateleiotic dwarfism [RCV001262183]|not provided [RCV003727961] Chr17:63917461 [GRCh38]
Chr17:61994821 [GRCh37]
Chr17:17q23.3		 uncertain significance
NC_000017.11:g.63918961A>G single nucleotide variant not provided [RCV001568242] Chr17:63918961 [GRCh38]
Chr17:61996321 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.484G>A (p.Gly162Arg) single nucleotide variant Ateleiotic dwarfism [RCV001335368] Chr17:63917479 [GRCh38]
Chr17:61994839 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.131A>C (p.His44Pro) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV001293731] Chr17:63918386 [GRCh38]
Chr17:61995746 [GRCh37]
Chr17:17q23.3		 likely pathogenic
NM_000515.5(GH1):c.302T>C (p.Leu101Pro) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV001332507]|not provided [RCV003229044] Chr17:63917914 [GRCh38]
Chr17:61995274 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu) indel Ateleiotic dwarfism [RCV001335367] Chr17:63918113..63918120 [GRCh38]
Chr17:61995473..61995480 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.588G>A (p.Met196Ile) single nucleotide variant Ateleiotic dwarfism [RCV001332508] Chr17:63917375 [GRCh38]
Chr17:61994735 [GRCh37]
Chr17:17q23.3		 uncertain significance
NC_000017.10:g.(?_61994669)_(61996136_?)del deletion not provided [RCV001385453] Chr17:61994669..61996136 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.456+90T>A single nucleotide variant not provided [RCV001717432] Chr17:63917670 [GRCh38]
Chr17:61995030 [GRCh37]
Chr17:17q23.3		 benign
NC_000017.11:g.63919139C>A single nucleotide variant not provided [RCV001724638] Chr17:63919139 [GRCh38]
Chr17:61996499 [GRCh37]
Chr17:17q23.3		 benign
NC_000017.11:g.63919181del deletion not provided [RCV001688195] Chr17:63919177 [GRCh38]
Chr17:61996537 [GRCh37]
Chr17:17q23.3		 benign
NM_000515.5(GH1):c.118_122del (p.Met40fs) deletion not provided [RCV001783361] Chr17:63918395..63918399 [GRCh38]
Chr17:61995755..61995759 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.151T>A (p.Phe51Ile) single nucleotide variant not provided [RCV001757870] Chr17:63918366 [GRCh38]
Chr17:61995726 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.426C>G (p.Asp142Glu) single nucleotide variant not provided [RCV001872941] Chr17:63917790 [GRCh38]
Chr17:61995150 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.86C>A (p.Thr29Asn) single nucleotide variant not provided [RCV001980771] Chr17:63918431 [GRCh38]
Chr17:61995791 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.452T>C (p.Met151Thr) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV002226579] Chr17:63917764 [GRCh38]
Chr17:61995124 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.456+16G>A single nucleotide variant not provided [RCV002186232] Chr17:63917744 [GRCh38]
Chr17:61995104 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.456+19G>T single nucleotide variant Ateleiotic dwarfism [RCV002500243]|not provided [RCV002143006] Chr17:63917741 [GRCh38]
Chr17:61995101 [GRCh37]
Chr17:17q23.3		 benign|likely benign
NC_000017.10:g.(?_61994669)_(61995030_?)del deletion not provided [RCV003111324] Chr17:61994669..61995030 [GRCh37]
Chr17:17q23.3		 uncertain significance
NC_000017.10:g.(?_61994669)_(61996359_?)dup duplication not provided [RCV003111325] Chr17:61994669..61996359 [GRCh37]
Chr17:17q23.3		 uncertain significance
NC_000017.10:g.(?_61994669)_(61996359_?)del deletion not provided [RCV003111326] Chr17:61994669..61996359 [GRCh37]
Chr17:17q23.3		 pathogenic
NM_000515.5(GH1):c.473G>T (p.Ser158Ile) single nucleotide variant not provided [RCV003154451] Chr17:63917490 [GRCh38]
Chr17:61994850 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.414C>A (p.Asp138Glu) single nucleotide variant not provided [RCV002288091] Chr17:63917802 [GRCh38]
Chr17:61995162 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.254C>T (p.Pro85Leu) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV002279179] Chr17:63918054 [GRCh38]
Chr17:61995414 [GRCh37]
Chr17:17q23.3		 likely pathogenic
GRCh37/hg19 17q23.3(chr17:61838634-62465444)x4 copy number gain not provided [RCV002473722] Chr17:61838634..62465444 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.399C>A (p.Asp133Glu) single nucleotide variant not provided [RCV002467009] Chr17:63917817 [GRCh38]
Chr17:61995177 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.11-8C>T single nucleotide variant Ateleiotic dwarfism [RCV002308491]|not provided [RCV003775013] Chr17:63918514 [GRCh38]
Chr17:61995874 [GRCh37]
Chr17:17q23.3		 likely benign|uncertain significance
NM_000515.5(GH1):c.190A>G (p.Lys64Glu) single nucleotide variant Inborn genetic diseases [RCV002778604] Chr17:63918118 [GRCh38]
Chr17:61995478 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.41G>C (p.Gly14Ala) single nucleotide variant Inborn genetic diseases [RCV002997210] Chr17:63918476 [GRCh38]
Chr17:61995836 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.359G>A (p.Arg120Lys) single nucleotide variant Inborn genetic diseases [RCV002905368] Chr17:63917857 [GRCh38]
Chr17:61995217 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.454G>T (p.Gly152Trp) single nucleotide variant not provided [RCV002776041] Chr17:63917762 [GRCh38]
Chr17:61995122 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.251T>C (p.Ile84Thr) single nucleotide variant not provided [RCV002947105] Chr17:63918057 [GRCh38]
Chr17:61995417 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.292-16C>G single nucleotide variant not provided [RCV002591971] Chr17:63917940 [GRCh38]
Chr17:61995300 [GRCh37]
Chr17:17q23.3		 benign
NM_000515.5(GH1):c.114C>T (p.Asn38=) single nucleotide variant not provided [RCV002979535] Chr17:63918403 [GRCh38]
Chr17:61995763 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.466G>T (p.Asp156Tyr) single nucleotide variant not provided [RCV003083487] Chr17:63917497 [GRCh38]
Chr17:61994857 [GRCh37]
Chr17:17q23.3		 uncertain significance
NC_000017.11:g.63918999G>A single nucleotide variant not provided [RCV003064482] Chr17:63918999 [GRCh38]
Chr17:61996359 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.292-18C>A single nucleotide variant not provided [RCV003046145] Chr17:63917942 [GRCh38]
Chr17:61995302 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.156C>T (p.Asp52=) single nucleotide variant not provided [RCV002937754] Chr17:63918361 [GRCh38]
Chr17:61995721 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.20C>T (p.Thr7Met) single nucleotide variant Inborn genetic diseases [RCV003161740]|not provided [RCV003093613] Chr17:63918497 [GRCh38]
Chr17:61995857 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.410A>G (p.Tyr137Cys) single nucleotide variant not provided [RCV002603546] Chr17:63917806 [GRCh38]
Chr17:61995166 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.195A>G (p.Glu65=) single nucleotide variant not provided [RCV002586338] Chr17:63918113 [GRCh38]
Chr17:61995473 [GRCh37]
Chr17:17q23.3		 likely benign|uncertain significance
NM_000515.5(GH1):c.172-14G>C single nucleotide variant not provided [RCV002610799] Chr17:63918150 [GRCh38]
Chr17:61995510 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.292-14T>C single nucleotide variant not provided [RCV002586814] Chr17:63917938 [GRCh38]
Chr17:61995298 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.295C>A (p.Leu99Ile) single nucleotide variant Inborn genetic diseases [RCV003190019] Chr17:63917921 [GRCh38]
Chr17:61995281 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.160T>C (p.Tyr54His) single nucleotide variant Inborn genetic diseases [RCV003200228] Chr17:63918357 [GRCh38]
Chr17:61995717 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.308G>A (p.Arg103His) single nucleotide variant not provided [RCV003135364] Chr17:63917908 [GRCh38]
Chr17:61995268 [GRCh37]
Chr17:17q23.3		 uncertain significance
NC_000017.11:g.(63914995_63921260)del deletion Ateleiotic dwarfism [RCV003142283]   pathogenic
NM_000515.5(GH1):c.517G>C (p.Asp173His) single nucleotide variant not provided [RCV003323027] Chr17:63917446 [GRCh38]
Chr17:61994806 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.304C>T (p.Leu102Phe) single nucleotide variant Inborn genetic diseases [RCV003374536] Chr17:63917912 [GRCh38]
Chr17:61995272 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.334T>C (p.Trp112Arg) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV003455852] Chr17:63917882 [GRCh38]
Chr17:61995242 [GRCh37]
Chr17:17q23.3		 likely pathogenic
NM_000515.5(GH1):c.117T>C (p.Ala39=) single nucleotide variant not specified [RCV003388395] Chr17:63918400 [GRCh38]
Chr17:61995760 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.-5C>T single nucleotide variant not provided [RCV003428404]|not specified [RCV003491386] Chr17:63918781 [GRCh38]
Chr17:61996141 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.510C>G (p.Ser170Arg) single nucleotide variant not provided [RCV003660492] Chr17:63917453 [GRCh38]
Chr17:61994813 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.-5_-4delinsTG indel not specified [RCV003489638] Chr17:63918780..63918781 [GRCh38]
Chr17:61996140..61996141 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.474C>T (p.Ser158=) single nucleotide variant not provided [RCV003830459] Chr17:63917489 [GRCh38]
Chr17:61994849 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.292-16C>T single nucleotide variant not provided [RCV003828937] Chr17:63917940 [GRCh38]
Chr17:61995300 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.456+19G>A single nucleotide variant not provided [RCV003814587] Chr17:63917741 [GRCh38]
Chr17:61995101 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.52C>G (p.Leu18Val) single nucleotide variant not provided [RCV003671831] Chr17:63918465 [GRCh38]
Chr17:61995825 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.172-15C>T single nucleotide variant not provided [RCV003851035] Chr17:63918151 [GRCh38]
Chr17:61995511 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.292-16del deletion not provided [RCV003818478] Chr17:63917940 [GRCh38]
Chr17:61995300 [GRCh37]
Chr17:17q23.3		 benign
NM_000515.5(GH1):c.125G>A (p.Arg42His) single nucleotide variant not provided [RCV003552475] Chr17:63918392 [GRCh38]
Chr17:61995752 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.493T>C (p.Phe165Leu) single nucleotide variant not provided [RCV003551270]|not specified [RCV004701718] Chr17:63917470 [GRCh38]
Chr17:61994830 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.150C>G (p.Ala50=) single nucleotide variant not provided [RCV003733445] Chr17:63918367 [GRCh38]
Chr17:61995727 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.639C>T (p.Gly213=) single nucleotide variant GH1-related disorder [RCV003941369] Chr17:63917324 [GRCh38]
Chr17:61994684 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.90T>C (p.Ile30=) single nucleotide variant not provided [RCV003728214] Chr17:63918427 [GRCh38]
Chr17:61995787 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.333G>A (p.Ser111=) single nucleotide variant not provided [RCV003670767] Chr17:63917883 [GRCh38]
Chr17:61995243 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.172-15C>G single nucleotide variant not provided [RCV003846659] Chr17:63918151 [GRCh38]
Chr17:61995511 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.292-19G>A single nucleotide variant not provided [RCV003818788] Chr17:63917943 [GRCh38]
Chr17:61995303 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.172-1G>A single nucleotide variant Idiopathic growth hormone deficiency [RCV003988556]|not provided [RCV004701898] Chr17:63918137 [GRCh38]
Chr17:61995497 [GRCh37]
Chr17:17q23.3		 pathogenic|likely pathogenic
NM_000515.5(GH1):c.516C>T (p.Phe172=) single nucleotide variant GH1-related disorder [RCV003944484]|Inborn genetic diseases [RCV004369850] Chr17:63917447 [GRCh38]
Chr17:61994807 [GRCh37]
Chr17:17q23.3		 likely benign
GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3 copy number gain See cases [RCV004442795] Chr17:58596397..62540700 [GRCh37]
Chr17:17q23.2-23.3		 uncertain significance
NM_000515.5(GH1):c.47_55del (p.Leu16_Leu18del) deletion Ateleiotic dwarfism [RCV004546890] Chr17:63918462..63918470 [GRCh38]
Chr17:61995822..61995830 [GRCh37]
Chr17:17q23.3		 uncertain significance
NC_000017.10:g.(?_61994562)_(61996200_?)dup duplication not specified [RCV003994948] Chr17:61994562..61996200 [GRCh37]
Chr17:17q23.3		 likely benign
NC_000017.11:g.63918992C>T single nucleotide variant GH1-related disorder [RCV003927060] Chr17:63918992 [GRCh38]
Chr17:61996352 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.21G>C (p.Thr7=) single nucleotide variant GH1-related disorder [RCV003909398] Chr17:63918496 [GRCh38]
Chr17:61995856 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.531C>T (p.His177=) single nucleotide variant Inborn genetic diseases [RCV004390523] Chr17:63917432 [GRCh38]
Chr17:61994792 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.152T>C (p.Phe51Ser) single nucleotide variant Inborn genetic diseases [RCV004390520] Chr17:63918365 [GRCh38]
Chr17:61995725 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.213G>A (p.Leu71=) single nucleotide variant Inborn genetic diseases [RCV004390521] Chr17:63918095 [GRCh38]
Chr17:61995455 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.267C>G (p.Asn89Lys) single nucleotide variant Inborn genetic diseases [RCV004390522] Chr17:63918041 [GRCh38]
Chr17:61995401 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.456+10G>A single nucleotide variant not specified [RCV004766786] Chr17:63917750 [GRCh38]
Chr17:61995110 [GRCh37]
Chr17:17q23.3		 likely benign
NM_000515.5(GH1):c.625C>T (p.Arg209Cys) single nucleotide variant not provided [RCV004770471] Chr17:63917338 [GRCh38]
Chr17:61994698 [GRCh37]
Chr17:17q23.3		 uncertain significance
NM_000515.5(GH1):c.640_648del (p.Ser214_Gly216del) deletion Autosomal dominant isolated somatotropin deficiency [RCV004776387] Chr17:63917315..63917323 [GRCh38]
Chr17:61994675..61994683 [GRCh37]		 uncertain significance
NM_000515.5(GH1):c.529C>G (p.His177Asp) single nucleotide variant not specified [RCV004702803] Chr17:63917434 [GRCh38]
Chr17:61994794 [GRCh37]
Chr17:17q23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1548
Count of miRNA genes:430
Interacting mature miRNAs:457
Transcripts:ENST00000323322, ENST00000342364, ENST00000351388, ENST00000458650, ENST00000579711
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407320244GWAS969220_HBMI-adjusted waist-hip ratio QTL GWAS969220 (human)3e-08BMI-adjusted waist-hip ratio176391781063917811Human
407053083GWAS702059_Hgut microbiome measurement QTL GWAS702059 (human)0.000009gut microbiome measurement176391882363918824Human
407333272GWAS982248_HIGF-1 measurement QTL GWAS982248 (human)2e-114IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)176391781063917811Human

Markers in Region
RH93308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,996,272 - 61,996,406UniSTSGRCh37
GRCh371761,988,692 - 61,988,826UniSTSGRCh37
Build 361759,342,424 - 59,342,558RGDNCBI36
Celera1756,376,741 - 56,376,875RGD
Celera1756,384,311 - 56,384,445UniSTS
Cytogenetic Map17q24.2UniSTS
HuRef1757,356,394 - 57,356,528UniSTS
HuRef1757,363,964 - 57,364,098UniSTS
GeneMap99-GB4 RH Map17405.21UniSTS
G44343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,996,130 - 61,996,254UniSTSGRCh37
Build 361759,349,862 - 59,349,986RGDNCBI36
Celera1756,384,169 - 56,384,293RGD
Cytogenetic Map17q24.2UniSTS
HuRef1757,363,822 - 57,363,946UniSTS
D17S1285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,995,172 - 61,995,284UniSTSGRCh37
Build 361759,348,904 - 59,349,016RGDNCBI36
Celera1756,383,211 - 56,383,323RGD
Cytogenetic Map17q24.2UniSTS
HuRef1757,362,864 - 57,362,976UniSTS
RH77971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,994,603 - 61,994,742UniSTSGRCh37
Build 361759,348,335 - 59,348,474RGDNCBI36
Celera1756,382,642 - 56,382,781RGD
Cytogenetic Map17q24.2UniSTS
HuRef1757,362,295 - 57,362,434UniSTS
GeneMap99-GB4 RH Map17405.21UniSTS
PMC134699P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,995,139 - 61,995,490UniSTSGRCh37
GRCh371761,987,541 - 61,987,893UniSTSGRCh37
Build 361759,341,273 - 59,341,625RGDNCBI36
Celera1756,375,590 - 56,375,942RGD
Celera1756,383,178 - 56,383,529UniSTS
Cytogenetic Map17q24.2UniSTS
HuRef1757,355,243 - 57,355,595UniSTS
HuRef1757,362,831 - 57,363,182UniSTS
PMC134699P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,995,205 - 61,995,407UniSTSGRCh37
Build 361759,348,937 - 59,349,139RGDNCBI36
Celera1756,383,244 - 56,383,446RGD
Cytogenetic Map17q24.2UniSTS
HuRef1757,362,897 - 57,363,099UniSTS
PMC84908P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,995,377 - 61,996,176UniSTSGRCh37
Build 361759,349,109 - 59,349,908RGDNCBI36
Celera1756,383,416 - 56,384,215RGD
Cytogenetic Map17q24.2UniSTS
HuRef1757,363,069 - 57,363,868UniSTS
STS-J03756  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q24.2UniSTS
GeneMap99-GB4 RH Map17405.21UniSTS
NCBI RH Map17675.8UniSTS
GHI  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,958,200 - 61,958,845UniSTSGRCh37
GRCh371761,995,188 - 61,995,832UniSTSGRCh37
Celera1756,346,282 - 56,346,927UniSTS
Celera1756,383,227 - 56,383,871UniSTS
HuRef1757,362,880 - 57,363,524UniSTS
HuRef1757,325,853 - 57,326,498UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1118 1937 2370 1763 3668 1338 1653 3 412 1351 257 1978 5293 5114 15 2688 573 1466 1156 155

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A00469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  A12770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC127029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF110644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF185611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV749353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV753220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY613431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY613432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD108592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU421712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LM644140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000323322   ⟹   ENSP00000312673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1763,917,203 - 63,918,839 (-)Ensembl
Ensembl Acc Id: ENST00000342364   ⟹   ENSP00000339278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1763,917,203 - 63,918,838 (-)Ensembl
Ensembl Acc Id: ENST00000351388   ⟹   ENSP00000343791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1763,917,200 - 63,918,818 (-)Ensembl
Ensembl Acc Id: ENST00000458650   ⟹   ENSP00000408486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1763,917,203 - 63,918,817 (-)Ensembl
Ensembl Acc Id: ENST00000579711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1763,917,494 - 63,918,668 (-)Ensembl
Ensembl Acc Id: ENST00000617086   ⟹   ENSP00000481276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1763,917,203 - 63,918,838 (-)Ensembl
RefSeq Acc Id: NM_000515   ⟹   NP_000506
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,917,203 - 63,918,839 (-)NCBI
GRCh371761,994,560 - 61,996,206 (-)NCBI
Build 361759,348,295 - 59,349,930 (-)NCBI Archive
HuRef1757,362,255 - 57,363,890 (-)ENTREZGENE
CHM1_11762,058,472 - 62,060,131 (-)NCBI
T2T-CHM13v2.01764,787,962 - 64,789,598 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022559   ⟹   NP_072053
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,917,203 - 63,918,839 (-)NCBI
GRCh371761,994,560 - 61,996,206 (-)NCBI
Build 361759,348,295 - 59,349,930 (-)NCBI Archive
HuRef1757,362,255 - 57,363,890 (-)ENTREZGENE
CHM1_11762,058,472 - 62,060,131 (-)NCBI
T2T-CHM13v2.01764,787,962 - 64,789,598 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022560   ⟹   NP_072054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,917,203 - 63,918,839 (-)NCBI
GRCh371761,994,560 - 61,996,206 (-)NCBI
Build 361759,348,295 - 59,349,930 (-)NCBI Archive
HuRef1757,362,255 - 57,363,890 (-)ENTREZGENE
CHM1_11762,058,472 - 62,060,131 (-)NCBI
T2T-CHM13v2.01764,787,962 - 64,789,598 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000506 (Get FASTA)   NCBI Sequence Viewer  
  NP_072053 (Get FASTA)   NCBI Sequence Viewer  
  NP_072054 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52549 (Get FASTA)   NCBI Sequence Viewer  
  AAA52554 (Get FASTA)   NCBI Sequence Viewer  
  AAA98618 (Get FASTA)   NCBI Sequence Viewer  
  AAD48584 (Get FASTA)   NCBI Sequence Viewer  
  AAG09699 (Get FASTA)   NCBI Sequence Viewer  
  AAH62475 (Get FASTA)   NCBI Sequence Viewer  
  AAH75012 (Get FASTA)   NCBI Sequence Viewer  
  AAH75013 (Get FASTA)   NCBI Sequence Viewer  
  AAH90045 (Get FASTA)   NCBI Sequence Viewer  
  AAT11508 (Get FASTA)   NCBI Sequence Viewer  
  AAT11509 (Get FASTA)   NCBI Sequence Viewer  
  ABZ88711 (Get FASTA)   NCBI Sequence Viewer  
  ABZ88712 (Get FASTA)   NCBI Sequence Viewer  
  ABZ88713 (Get FASTA)   NCBI Sequence Viewer  
  ABZ88714 (Get FASTA)   NCBI Sequence Viewer  
  ABZ88715 (Get FASTA)   NCBI Sequence Viewer  
  CAA00065 (Get FASTA)   NCBI Sequence Viewer  
  CAA01057 (Get FASTA)   NCBI Sequence Viewer  
  CAA23778 (Get FASTA)   NCBI Sequence Viewer  
  CAA23779 (Get FASTA)   NCBI Sequence Viewer  
  CDW51387 (Get FASTA)   NCBI Sequence Viewer  
  EAW94233 (Get FASTA)   NCBI Sequence Viewer  
  EAW94239 (Get FASTA)   NCBI Sequence Viewer  
  EAW94251 (Get FASTA)   NCBI Sequence Viewer  
  EAW94261 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000312673
  ENSP00000312673.5
  ENSP00000339278.4
  ENSP00000343791
  ENSP00000343791.4
  ENSP00000408486
  ENSP00000408486.2
  ENSP00000481276.1
GenBank Protein P01241 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_072054   ⟸   NM_022560
- Peptide Label: isoform 3 precursor
- UniProtKB: A0A087WXJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_072053   ⟸   NM_022559
- Peptide Label: isoform 2 precursor
- UniProtKB: B1A4G7 (UniProtKB/TrEMBL),   Q6IYF0 (UniProtKB/TrEMBL),   Q6IYF1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000506   ⟸   NM_000515
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UMJ7 (UniProtKB/Swiss-Prot),   Q9HBZ1 (UniProtKB/Swiss-Prot),   Q5EB53 (UniProtKB/Swiss-Prot),   Q16631 (UniProtKB/Swiss-Prot),   Q14405 (UniProtKB/Swiss-Prot),   A6NEF6 (UniProtKB/Swiss-Prot),   Q9UNL5 (UniProtKB/Swiss-Prot),   P01241 (UniProtKB/Swiss-Prot),   B1A4G6 (UniProtKB/TrEMBL),   Q6IYF0 (UniProtKB/TrEMBL),   Q6IYF1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000312673   ⟸   ENST00000323322
Ensembl Acc Id: ENSP00000408486   ⟸   ENST00000458650
Ensembl Acc Id: ENSP00000343791   ⟸   ENST00000351388
Ensembl Acc Id: ENSP00000481276   ⟸   ENST00000617086
Ensembl Acc Id: ENSP00000339278   ⟸   ENST00000342364

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01241-F1-model_v2 AlphaFold P01241 1-217 view protein structure

Promoters
RGD ID:6850022
Promoter ID:EP11125
Type:single initiation site
Name:HS_GH1
Description:Growth hormone, GH1 gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 44; Mammalian growth hormone.
Tissues & Cell Lines:pituitary
Experiment Methods:Nuclease protection; RNA sequencing by primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 361759,349,930 - 59,349,990EPD
RGD ID:7236005
Promoter ID:EPDNEW_H23747
Type:initiation region
Name:GH1_1
Description:growth hormone 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23749  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,918,838 - 63,918,898EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4261 AgrOrtholog
COSMIC GH1 COSMIC
Ensembl Genes ENSG00000259384 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000323322 ENTREZGENE
  ENST00000323322.10 UniProtKB/Swiss-Prot
  ENST00000342364.8 UniProtKB/TrEMBL
  ENST00000351388 ENTREZGENE
  ENST00000351388.8 UniProtKB/Swiss-Prot
  ENST00000458650 ENTREZGENE
  ENST00000458650.6 UniProtKB/Swiss-Prot
  ENST00000617086.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000259384 GTEx
HGNC ID HGNC:4261 ENTREZGENE
Human Proteome Map GH1 Human Proteome Map
InterPro 4_helix_cytokine-like_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Somatotropin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Somatotropin/Prolactin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Somatotropin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2688 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2688 ENTREZGENE
OMIM 139250 OMIM
PANTHER PTHR11417 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOMATOTROPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hormone_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA171 PharmGKB
PRINTS SOMATOTROPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SOMATOTROPIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOMATOTROPIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47266 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WXJ5 ENTREZGENE
  A6NEF6 ENTREZGENE
  B1A4G6 ENTREZGENE, UniProtKB/TrEMBL
  B1A4G7 ENTREZGENE, UniProtKB/TrEMBL
  B1A4G9_HUMAN UniProtKB/TrEMBL
  B1A4H0_HUMAN UniProtKB/TrEMBL
  P01241 ENTREZGENE
  Q14405 ENTREZGENE
  Q16631 ENTREZGENE
  Q5EB53 ENTREZGENE
  Q6IYF0 ENTREZGENE, UniProtKB/TrEMBL
  Q6IYF1 ENTREZGENE, UniProtKB/TrEMBL
  Q9HBZ1 ENTREZGENE
  Q9UMJ7 ENTREZGENE
  Q9UNL5 ENTREZGENE
  SOMA_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NEF6 UniProtKB/Swiss-Prot
  A6NP12 UniProtKB/TrEMBL
  Q14405 UniProtKB/Swiss-Prot
  Q16631 UniProtKB/Swiss-Prot
  Q5EB53 UniProtKB/Swiss-Prot
  Q9HBZ1 UniProtKB/Swiss-Prot
  Q9UMJ7 UniProtKB/Swiss-Prot
  Q9UNL5 UniProtKB/Swiss-Prot