GHR (growth hormone receptor) - Rat Genome Database

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Gene: GHR (growth hormone receptor) Homo sapiens
Analyze
Symbol: GHR
Name: growth hormone receptor
RGD ID: 69149
HGNC Page HGNC
Description: Enables growth factor binding activity; peptide hormone binding activity; and protein homodimerization activity. Involved in several processes, including response to cycloheximide; response to estradiol; and transmembrane receptor protein tyrosine kinase signaling pathway. Located in several cellular components, including cell surface; cytoplasmic ribonucleoprotein granule; and extracellular space. Is integral component of plasma membrane. Part of growth hormone receptor complex. Implicated in several diseases, including Laron syndrome; familial hypercholesterolemia; isolated growth hormone deficiency; osteoarthritis; and type 2 diabetes mellitus. Biomarker of Laron syndrome; breast cancer; and type 1 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GH receptor; GHBP; GHIP; growth hormone binding protein; mutant growth hormone receptor; serum binding protein; somatotropin receptor; truncated growth hormone receptor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl542,423,439 - 42,721,878 (+)EnsemblGRCh38hg38GRCh38
GRCh38542,423,439 - 42,721,878 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37542,423,541 - 42,721,980 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36542,459,783 - 42,757,683 (+)NCBINCBI36hg18NCBI36
Build 34542,459,782 - 42,757,682NCBI
Celera542,314,115 - 42,611,474 (+)NCBI
Cytogenetic Map5p13.1-p12NCBI
HuRef542,375,464 - 42,673,429 (+)NCBIHuRef
CHM1_1542,425,901 - 42,723,964 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-vinylcyclohexene dioxide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsenite(3-)  (ISO)
atrazine  (ISO)
bacitracin  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
buspirone  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcitriol  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
chlormequat chloride  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP,ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
cytarabine  (EXP)
DDT  (ISO)
dexamethasone  (EXP)
dichlorine  (ISO)
diclofenac  (ISO)
disodium selenite  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (EXP,ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fipronil  (EXP)
flutamide  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
hydrogen peroxide  (ISO)
indometacin  (EXP)
L-methionine  (ISO)
menadione  (ISO)
methapyrilene  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mifepristone  (ISO)
monosodium L-glutamate  (ISO)
N,N-diethyl-m-toluamide  (EXP,ISO)
N-[2-[4-(2-methoxyphenyl)-1-piperazinyl]ethyl]-N-(2-pyridinyl)cyclohexanecarboxamide  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
naproxen  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
permethrin  (ISO)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
raloxifene  (EXP)
resveratrol  (ISO)
Salinomycin  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulindac  (ISO)
sumatriptan  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

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

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal joint morphology  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of the elbow  (IAGP)
Aplasia/Hypoplasia involving the nose  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blue sclerae  (IAGP)
Brachydactyly  (IAGP)
Corneal arcus  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Decreased body mass index  (IAGP)
Decreased serum insulin-like growth factor 1  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed menarche  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal ridge  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Genu varum  (IAGP)
High forehead  (IAGP)
High pitched voice  (IAGP)
Hip osteoarthritis  (IAGP)
Hypercholesterolemia  (IAGP)
Hypoglycemia  (IAGP)
Hypohidrosis  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplastic nasal bridge  (IAGP)
Increased LDL cholesterol concentration  (IAGP)
Intellectual disability  (IAGP)
Limb undergrowth  (IAGP)
Mesomelic/rhizomelic limb shortening  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Osteoarthritis  (IAGP)
Prematurely aged appearance  (IAGP)
Relative macrocephaly  (IAGP)
Seizure  (IAGP)
Severe short stature  (IAGP)
Short long bone  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Small face  (IAGP)
Small for gestational age  (IAGP)
Specific learning disability  (IAGP)
Tendon xanthomatosis  (IAGP)
Tooth agenesis  (IAGP)
Truncal obesity  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Xanthelasma  (IAGP)
References

References - curated
1. Audi L, etal., J Clin Endocrinol Metab. 2006 Dec;91(12):5038-43. Epub 2006 Sep 26.
2. Bellush LL, etal., Endocrinology. 2000 Jan;141(1):163-8.
3. Berger I, etal., Histol Histopathol. 2007 Nov;22(11):1231-9.
4. Binder G, etal., Clin Endocrinol (Oxf). 2008 Apr;68(4):567-72. Epub 2007 Oct 31.
5. Casse AH, etal., Endocrinology. 2003 Aug;144(8):3692-7.
6. Christophidis LJ, etal., Growth Horm IGF Res. 2009 Dec;19(6):497-506. Epub 2009 Jun 12.
7. Claessen KM, etal., Ann Rheum Dis. 2014 Feb;73(2):433-6. doi: 10.1136/annrheumdis-2012-202713. Epub 2013 Jun 5.
8. Enhamre E, etal., Neurosci Lett. 2012 Aug 8;523(1):82-6. doi: 10.1016/j.neulet.2012.06.050. Epub 2012 Jun 27.
9. GOA_HUMAN data from the GO Consortium
10. Goddard AD, etal., N Engl J Med. 1995 Oct 26;333(17):1093-8.
11. Godowski PJ, etal., Proc Natl Acad Sci U S A. 1989 Oct;86(20):8083-7.
12. Gowri PM, etal., Mol Cell Biol. 2003 Feb;23(3):815-25.
13. Hartleb S, etal., Pharmacogenomics. 2011 Dec;12(12):1653-61. doi: 10.2217/pgs.11.113. Epub 2011 Oct 25.
14. Held MA, etal., Am J Physiol Gastrointest Liver Physiol. 2005 May;288(5):G986-93. Epub 2004 Dec 16.
15. Klammt J, etal., Clin Endocrinol (Oxf). 2015 Mar;82(3):453-61. doi: 10.1111/cen.12606. Epub 2014 Oct 20.
16. Kobayashi K, etal., Endocr J. 1999 Mar;46 Suppl:S67-9.
17. Kong SE, etal., Am J Physiol Endocrinol Metab 2002 Oct;283(4):E692-701.
18. Landau D, etal., Growth Horm IGF Res. 1998 Feb;8(1):39-45.
19. Landau D, etal., Int J Exp Diabetes Res. 2000;1(1):9-18.
20. Li W, etal., Acta Pharmacol Sin. 2004 Apr;25(4):490-5.
21. Menon RK, etal., J Endocrinol. 1994 Sep;142(3):453-62.
22. O'Leary MJ, etal., Intensive Care Med. 2000 Oct;26(10):1547-52.
23. OMIM Disease Annotation Pipeline
24. Online Mendelian Inheritance in Man, OMIM (TM).
25. Pazaitou-Panayiotou K, etal., Eur J Endocrinol. 2007 Feb;156(2):187-94.
26. Pereira FA, etal., Calcif Tissue Int. 2009 Jul;85(1):75-83. doi: 10.1007/s00223-009-9249-3. Epub 2009 May 8.
27. Pipeline to import KEGG annotations from KEGG into RGD
28. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
29. RGD automated import pipeline for gene-chemical interactions
30. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
31. Sanchez JE, etal., J Clin Endocrinol Metab. 1998 Nov;83(11):4079-83.
32. Segev Y, etal., J Am Soc Nephrol. 1999 Nov;10(11):2374-81.
33. Sobrier ML, etal., J Clin Endocrinol Metab. 1997 Feb;82(2):435-7.
34. Strawbridge RJ, etal., Growth Horm IGF Res. 2007 Oct;17(5):392-8. Epub 2007 May 29.
35. Symons AL Eur J Oral Sci. 2003 Dec;111(6):503-9.
36. Tang H, etal., J Neurosci Res. 2011 Feb;89(2):248-55. doi: 10.1002/jnr.22540. Epub 2010 Dec 8.
37. Valerio G, etal., Clin Endocrinol (Oxf). 1997 Sep;47(3):329-35.
38. van der Pluijm I, etal., PLoS Biol. 2007 Jan;5(1):e2.
39. Wang HT, etal., World J Gastroenterol. 2003 Apr;9(4):765-70.
40. Wang P, etal., Zhonghua Wai Ke Za Zhi. 2002 Dec;40(12):940-4.
41. Wassenaar MJ, etal., J Clin Endocrinol Metab. 2009 Dec;94(12):4671-8. doi: 10.1210/jc.2009-1172. Epub 2009 Oct 28.
42. Wolf N, etal., Exp Eye Res. 2005 Sep;81(3):276-85.
43. Zhou Y, etal., Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13215-20.
Additional References at PubMed
PMID:1284474   PMID:1301391   PMID:1549776   PMID:1569971   PMID:1955498   PMID:1999489   PMID:2369845   PMID:2406245   PMID:2776481   PMID:2776934   PMID:2779634   PMID:2825030  
PMID:7535773   PMID:7540178   PMID:7608270   PMID:7782332   PMID:7862673   PMID:7984244   PMID:8063815   PMID:8137822   PMID:8360189   PMID:8421103   PMID:8488849   PMID:8504296  
PMID:8636303   PMID:8702683   PMID:8855247   PMID:8889548   PMID:8901592   PMID:8923468   PMID:8943276   PMID:9058373   PMID:9075743   PMID:9121492   PMID:9140387   PMID:9341147  
PMID:9353194   PMID:9360546   PMID:9442080   PMID:9571026   PMID:9632636   PMID:9632658   PMID:9851797   PMID:9886834   PMID:10391209   PMID:10502458   PMID:10551776   PMID:10567404  
PMID:10585430   PMID:10715538   PMID:10764769   PMID:10866662   PMID:10870033   PMID:10976913   PMID:11158048   PMID:11316758   PMID:11513560   PMID:11719288   PMID:11785980   PMID:11851338  
PMID:11924928   PMID:12088868   PMID:12135564   PMID:12423626   PMID:12477932   PMID:12552091   PMID:12586763   PMID:12611612   PMID:12679461   PMID:12735788   PMID:12756585   PMID:12846737  
PMID:12907755   PMID:14517972   PMID:14551225   PMID:14678285   PMID:14718574   PMID:15001620   PMID:15042833   PMID:15044591   PMID:15061875   PMID:15085728   PMID:15196705   PMID:15563602  
PMID:15583394   PMID:15743767   PMID:15751611   PMID:15755445   PMID:15857837   PMID:15891957   PMID:16116438   PMID:16213173   PMID:16246940   PMID:16291702   PMID:16291706   PMID:16352683  
PMID:16372230   PMID:16381017   PMID:16394090   PMID:16572267   PMID:16582564   PMID:16675548   PMID:16722931   PMID:16741161   PMID:16757551   PMID:17082603   PMID:17090634   PMID:17137217  
PMID:17148568   PMID:17220348   PMID:17274879   PMID:17289896   PMID:17347571   PMID:17350302   PMID:17405847   PMID:17426087   PMID:17462934   PMID:17474147   PMID:17500058   PMID:17514010  
PMID:17546465   PMID:17547682   PMID:17555507   PMID:17555512   PMID:17573420   PMID:17598975   PMID:17622584   PMID:17666591   PMID:17671221   PMID:17706034   PMID:17711923   PMID:17761766  
PMID:17764692   PMID:17849745   PMID:17884454   PMID:17925340   PMID:17957148   PMID:17986824   PMID:17991764   PMID:18001530   PMID:18031312   PMID:18054353   PMID:18073295   PMID:18160465  
PMID:18182091   PMID:18204098   PMID:18299312   PMID:18397980   PMID:18401200   PMID:18404972   PMID:18420710   PMID:18445665   PMID:18488018   PMID:18611972   PMID:18636124   PMID:18648510  
PMID:18676680   PMID:18793346   PMID:18820897   PMID:18832799   PMID:18950677   PMID:18974274   PMID:19050057   PMID:19064572   PMID:19084217   PMID:19089622   PMID:19116245   PMID:19116246  
PMID:19167335   PMID:19169479   PMID:19170196   PMID:19189684   PMID:19204726   PMID:19336510   PMID:19344073   PMID:19344888   PMID:19407498   PMID:19417039   PMID:19439509   PMID:19447840  
PMID:19453261   PMID:19486024   PMID:19487270   PMID:19540305   PMID:19541519   PMID:19584188   PMID:19605543   PMID:19625176   PMID:19634821   PMID:19681916   PMID:19692168   PMID:19701549  
PMID:19730683   PMID:19812236   PMID:19815155   PMID:19842933   PMID:19844941   PMID:19850678   PMID:19913121   PMID:20013551   PMID:20039885   PMID:20105189   PMID:20149700   PMID:20219401  
PMID:20382688   PMID:20421852   PMID:20447065   PMID:20453000   PMID:20540360   PMID:20592127   PMID:20628086   PMID:20634197   PMID:20664532   PMID:20734064   PMID:20810604   PMID:20849725  
PMID:20855935   PMID:21073120   PMID:21195069   PMID:21238539   PMID:21273694   PMID:21310852   PMID:21347402   PMID:21386804   PMID:21436896   PMID:21470351   PMID:21623854   PMID:21744231  
PMID:21820924   PMID:21846964   PMID:21873635   PMID:21900382   PMID:21913951   PMID:21980433   PMID:22034227   PMID:22052808   PMID:22077984   PMID:22162472   PMID:22278433   PMID:22386777  
PMID:22433856   PMID:22456308   PMID:22702213   PMID:23006423   PMID:23047741   PMID:23162096   PMID:23192981   PMID:23288882   PMID:23426819   PMID:23607312   PMID:23696513   PMID:23782942  
PMID:23812803   PMID:23999134   PMID:24022308   PMID:24114431   PMID:24134847   PMID:24280222   PMID:24296660   PMID:24307807   PMID:24335149   PMID:24404629   PMID:24412931   PMID:24608110  
PMID:24654940   PMID:24664892   PMID:24676793   PMID:24706164   PMID:24866575   PMID:24893921   PMID:25073105   PMID:25211187   PMID:25231870   PMID:25241761   PMID:25301264   PMID:25391539  
PMID:25411947   PMID:25429064   PMID:25505247   PMID:25552351   PMID:25835289   PMID:25846210   PMID:25977383   PMID:26067082   PMID:26167880   PMID:26366551   PMID:27001494   PMID:27003442  
PMID:27015877   PMID:27075707   PMID:27513761   PMID:27857044   PMID:28115288   PMID:28293855   PMID:28415752   PMID:28523647   PMID:28557176   PMID:28626214   PMID:28630896   PMID:28686668  
PMID:28719834   PMID:28791847   PMID:28967904   PMID:29059297   PMID:29273483   PMID:29500309   PMID:29651721   PMID:29667468   PMID:29748515   PMID:30361972   PMID:30541116   PMID:31063794  
PMID:31279174   PMID:31462537   PMID:31834863   PMID:31883394   PMID:32069380   PMID:32393512   PMID:32543356   PMID:32869542   PMID:33008707   PMID:33053393   PMID:33096343   PMID:33492754  
PMID:34074802   PMID:34453799   PMID:34614013  


Genomics

Comparative Map Data
GHR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl542,423,439 - 42,721,878 (+)EnsemblGRCh38hg38GRCh38
GRCh38542,423,439 - 42,721,878 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37542,423,541 - 42,721,980 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36542,459,783 - 42,757,683 (+)NCBINCBI36hg18NCBI36
Build 34542,459,782 - 42,757,682NCBI
Celera542,314,115 - 42,611,474 (+)NCBI
Cytogenetic Map5p13.1-p12NCBI
HuRef542,375,464 - 42,673,429 (+)NCBIHuRef
CHM1_1542,425,901 - 42,723,964 (+)NCBICHM1_1
Ghr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39153,347,237 - 3,612,834 (-)NCBIGRCm39mm39
GRCm39 Ensembl153,347,242 - 3,612,974 (-)Ensembl
GRCm38153,317,755 - 3,583,352 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl153,317,760 - 3,583,492 (-)EnsemblGRCm38mm10GRCm38
MGSCv37153,267,760 - 3,533,230 (-)NCBIGRCm37mm9NCBIm37
MGSCv36153,267,774 - 3,533,231 (-)NCBImm8
Celera153,182,321 - 3,448,882 (-)NCBICelera
Cytogenetic Map15A1NCBI
cM Map151.84NCBI
Ghr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2252,541,452 - 52,804,960 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl252,542,594 - 52,804,735 (-)Ensembl
Rnor_6.0253,149,225 - 53,413,954 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl253,150,370 - 53,413,638 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0272,265,571 - 72,346,118 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0272,182,692 - 72,218,250 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4252,496,517 - 52,658,066 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1252,424,749 - 52,586,299 (-)NCBI
Celera248,257,266 - 48,408,640 (-)NCBICelera
RH 3.4 Map2332.2RGD
Cytogenetic Map2q16NCBI
Ghr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542626,689,581 - 26,871,684 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542626,553,509 - 26,873,619 (+)NCBIChiLan1.0ChiLan1.0
GHR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1572,700,150 - 72,997,356 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl572,700,150 - 72,871,278 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0567,654,326 - 67,953,140 (-)NCBIMhudiblu_PPA_v0panPan3
GHR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1467,021,821 - 67,245,499 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl467,022,252 - 67,290,473 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha466,705,544 - 66,845,096 (-)NCBI
ROS_Cfam_1.0467,531,090 - 67,802,322 (-)NCBI
UMICH_Zoey_3.1467,276,975 - 67,416,597 (-)NCBI
UNSW_CanFamBas_1.0467,407,363 - 67,546,744 (-)NCBI
UU_Cfam_GSD_1.0467,943,814 - 68,083,513 (-)NCBI
Ghr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213230,991,608 - 231,135,845 (+)NCBI
SpeTri2.0NW_004936518235,996 - 380,225 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GHR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1627,126,286 - 27,422,268 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11627,126,300 - 27,422,618 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21628,691,739 - 28,855,136 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GHR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1441,171,038 - 41,464,474 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl441,285,712 - 41,464,666 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607131,608,844 - 31,907,481 (+)NCBIVero_WHO_p1.0
Ghr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475912,282,295 - 12,570,106 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
L28287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,549,077 - 42,549,244UniSTSGRCh37
Build 36542,584,834 - 42,585,001RGDNCBI36
Celera542,438,552 - 42,438,719RGD
Cytogenetic Map5p13-p12UniSTS
HuRef542,500,656 - 42,500,823UniSTS
RH75947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,719,534 - 42,719,640UniSTSGRCh37
Build 36542,755,291 - 42,755,397RGDNCBI36
Celera542,609,084 - 42,609,190RGD
Cytogenetic Map5p13-p12UniSTS
HuRef542,670,981 - 42,671,087UniSTS
RH103550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,720,126 - 42,720,250UniSTSGRCh37
Build 36542,755,883 - 42,756,007RGDNCBI36
Celera542,609,677 - 42,609,801RGD
Cytogenetic Map5p13-p12UniSTS
HuRef542,671,575 - 42,671,699UniSTS
GeneMap99-GB4 RH Map5157.06UniSTS
RH120597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,431,454 - 42,431,757UniSTSGRCh37
Build 36542,467,211 - 42,467,514RGDNCBI36
Celera542,321,551 - 42,321,854RGD
Cytogenetic Map5p13-p12UniSTS
HuRef542,383,051 - 42,383,354UniSTS
TNG Radiation Hybrid Map521224.0UniSTS
RH124010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,514,889 - 42,515,170UniSTSGRCh37
Build 36542,550,646 - 42,550,927RGDNCBI36
Celera542,405,034 - 42,405,319RGD
Cytogenetic Map5p13-p12UniSTS
HuRef542,466,533 - 42,466,818UniSTS
TNG Radiation Hybrid Map521536.0UniSTS
G59264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,693,913 - 42,694,237UniSTSGRCh37
Build 36542,729,670 - 42,729,994RGDNCBI36
Celera542,583,459 - 42,583,783RGD
Cytogenetic Map5p13-p12UniSTS
HuRef542,645,342 - 42,645,666UniSTS
TNG Radiation Hybrid Map521495.0UniSTS
G63224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,641,396 - 42,641,672UniSTSGRCh37
Build 36542,677,153 - 42,677,429RGDNCBI36
Celera542,530,835 - 42,531,111RGD
Cytogenetic Map5p13-p12UniSTS
HuRef542,592,806 - 42,593,082UniSTS
TNG Radiation Hybrid Map521513.0UniSTS
D18S21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37188,562,482 - 8,562,642UniSTSGRCh37
Build 36188,552,482 - 8,552,642RGDNCBI36
Celera188,446,822 - 8,446,982RGD
HuRef188,526,855 - 8,527,015UniSTS
SHGC-110510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,655,319 - 42,655,591UniSTSGRCh37
Build 36542,691,076 - 42,691,348RGDNCBI36
Celera542,544,857 - 42,545,129RGD
Cytogenetic Map5p13-p12UniSTS
HuRef542,606,737 - 42,607,009UniSTS
TNG Radiation Hybrid Map521509.0UniSTS
human.GHR  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,719,533 - 42,719,635UniSTSGRCh37
Build 36542,755,290 - 42,755,392RGDNCBI36
Celera542,609,083 - 42,609,185RGD
Cytogenetic Map5p13-p12UniSTS
HuRef542,670,980 - 42,671,082UniSTS
GHR_332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,721,327 - 42,721,986UniSTSGRCh37
Build 36542,757,084 - 42,757,743RGDNCBI36
Celera542,610,875 - 42,611,534RGD
HuRef542,672,776 - 42,673,435UniSTS
SHGC-14459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,645,380 - 42,645,541UniSTSGRCh37
Build 36542,681,137 - 42,681,298RGDNCBI36
Celera542,534,819 - 42,534,980RGD
Cytogenetic Map5p13-p12UniSTS
HuRef542,596,788 - 42,596,949UniSTS
D5S1587E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,721,625 - 42,721,751UniSTSGRCh37
Build 36542,757,382 - 42,757,508RGDNCBI36
Celera542,611,173 - 42,611,299RGD
Cytogenetic Map5p13-p12UniSTS
HuRef542,673,074 - 42,673,200UniSTS
GeneMap99-GB4 RH Map5158.33UniSTS
STS-X06562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,721,766 - 42,721,947UniSTSGRCh37
Build 36542,757,523 - 42,757,704RGDNCBI36
Celera542,611,314 - 42,611,495RGD
Cytogenetic Map5p13-p12UniSTS
HuRef542,673,215 - 42,673,396UniSTS
GeneMap99-GB4 RH Map5156.75UniSTS
G15875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,720,978 - 42,721,364UniSTSGRCh37
Build 36542,756,735 - 42,757,121RGDNCBI36
Celera542,610,529 - 42,610,912RGD
Cytogenetic Map5p13-p12UniSTS
HuRef542,672,427 - 42,672,813UniSTS
D18S21  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q21UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5p13-p12UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic MapXp11.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2796
Count of miRNA genes:962
Interacting mature miRNAs:1138
Transcripts:ENST00000230882, ENST00000357703, ENST00000505006, ENST00000511135, ENST00000513625, ENST00000513671, ENST00000537449
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 257 349 466 357 46 351 2350 862 468 90 170 189 7 1190 1577
Low 2058 1877 1226 252 588 95 1923 1282 2212 265 1177 1262 161 1 14 1211 5 2
Below cutoff 96 684 31 13 988 17 82 53 1046 56 102 149 6 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC113368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF155912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF210633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF230800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF230801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH014851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ278681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ295613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ422105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM719293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU625645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ832616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS482307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC250959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC311148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM761441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC335035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW701347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW701348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW701349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S97393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z11801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z11802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z11848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z11849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z11850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z11851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z11853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000230882   ⟹   ENSP00000230882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl542,423,439 - 42,721,878 (+)Ensembl
RefSeq Acc Id: ENST00000357703   ⟹   ENSP00000350335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl542,565,864 - 42,721,878 (+)Ensembl
RefSeq Acc Id: ENST00000505006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl542,514,147 - 42,619,821 (+)Ensembl
RefSeq Acc Id: ENST00000511135   ⟹   ENSP00000422333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl542,565,856 - 42,719,791 (+)Ensembl
RefSeq Acc Id: ENST00000513625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl542,713,867 - 42,718,814 (+)Ensembl
RefSeq Acc Id: ENST00000513671   ⟹   ENSP00000426739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl542,424,518 - 42,659,364 (+)Ensembl
RefSeq Acc Id: ENST00000537449   ⟹   ENSP00000442206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl542,550,080 - 42,721,878 (+)Ensembl
RefSeq Acc Id: ENST00000612382   ⟹   ENSP00000478332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl542,548,213 - 42,721,878 (+)Ensembl
RefSeq Acc Id: ENST00000612626   ⟹   ENSP00000479846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl542,549,556 - 42,721,878 (+)Ensembl
RefSeq Acc Id: ENST00000615111   ⟹   ENSP00000478291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl542,424,452 - 42,721,878 (+)Ensembl
RefSeq Acc Id: ENST00000618088   ⟹   ENSP00000482373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl542,548,043 - 42,721,878 (+)Ensembl
RefSeq Acc Id: ENST00000620156   ⟹   ENSP00000483403
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl542,424,452 - 42,721,878 (+)Ensembl
RefSeq Acc Id: ENST00000622294   ⟹   ENSP00000483926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl542,565,864 - 42,721,878 (+)Ensembl
RefSeq Acc Id: NM_000163   ⟹   NP_000154
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,423,439 - 42,721,878 (+)NCBI
GRCh37542,423,577 - 42,721,980 (+)NCBI
Build 36542,459,783 - 42,757,683 (+)NCBI Archive
HuRef542,375,464 - 42,673,429 (+)ENTREZGENE
CHM1_1542,425,901 - 42,723,964 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242399   ⟹   NP_001229328
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,424,452 - 42,721,878 (+)NCBI
GRCh37542,423,577 - 42,721,980 (+)NCBI
HuRef542,375,464 - 42,673,429 (+)ENTREZGENE
CHM1_1542,426,578 - 42,723,964 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242400   ⟹   NP_001229329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,424,452 - 42,721,878 (+)NCBI
GRCh37542,423,577 - 42,721,980 (+)NCBI
HuRef542,375,464 - 42,673,429 (+)ENTREZGENE
CHM1_1542,426,578 - 42,723,964 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242401   ⟹   NP_001229330
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,424,981 - 42,721,878 (+)NCBI
GRCh37542,423,577 - 42,721,980 (+)NCBI
HuRef542,375,464 - 42,673,429 (+)ENTREZGENE
CHM1_1542,427,118 - 42,723,964 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242402   ⟹   NP_001229331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,548,043 - 42,721,878 (+)NCBI
GRCh37542,423,577 - 42,721,980 (+)NCBI
HuRef542,375,464 - 42,673,429 (+)ENTREZGENE
CHM1_1542,550,141 - 42,723,964 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242403   ⟹   NP_001229332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,548,450 - 42,721,878 (+)NCBI
GRCh37542,423,577 - 42,721,980 (+)NCBI
HuRef542,375,464 - 42,673,429 (+)ENTREZGENE
CHM1_1542,550,311 - 42,723,964 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242404   ⟹   NP_001229333
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,549,556 - 42,721,878 (+)NCBI
GRCh37542,423,577 - 42,721,980 (+)NCBI
HuRef542,375,464 - 42,673,429 (+)ENTREZGENE
CHM1_1542,551,654 - 42,723,964 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242405   ⟹   NP_001229334
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,550,080 - 42,721,878 (+)NCBI
GRCh37542,423,577 - 42,721,980 (+)NCBI
HuRef542,375,464 - 42,673,429 (+)ENTREZGENE
CHM1_1542,552,178 - 42,723,964 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242406   ⟹   NP_001229335
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,565,461 - 42,721,878 (+)NCBI
GRCh37542,423,577 - 42,721,980 (+)NCBI
HuRef542,375,464 - 42,673,429 (+)ENTREZGENE
CHM1_1542,567,559 - 42,723,964 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242460   ⟹   NP_001229389
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,565,864 - 42,721,878 (+)NCBI
GRCh37542,423,577 - 42,721,980 (+)NCBI
HuRef542,375,464 - 42,673,429 (+)ENTREZGENE
CHM1_1542,567,962 - 42,723,964 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242462   ⟹   NP_001229391
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,565,864 - 42,721,878 (+)NCBI
GRCh37542,423,577 - 42,721,980 (+)NCBI
HuRef542,375,464 - 42,673,429 (+)ENTREZGENE
CHM1_1542,567,962 - 42,723,964 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000154 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229328 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229329 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229330 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229331 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229332 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229333 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229334 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229335 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229389 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229391 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52555 (Get FASTA)   NCBI Sequence Viewer  
  AAB34503 (Get FASTA)   NCBI Sequence Viewer  
  AAD15015 (Get FASTA)   NCBI Sequence Viewer  
  AAF71399 (Get FASTA)   NCBI Sequence Viewer  
  AAI36497 (Get FASTA)   NCBI Sequence Viewer  
  AAY24715 (Get FASTA)   NCBI Sequence Viewer  
  CAA29808 (Get FASTA)   NCBI Sequence Viewer  
  CAA77845 (Get FASTA)   NCBI Sequence Viewer  
  CAA77846 (Get FASTA)   NCBI Sequence Viewer  
  CAA77872 (Get FASTA)   NCBI Sequence Viewer  
  CAA77873 (Get FASTA)   NCBI Sequence Viewer  
  CAA77874 (Get FASTA)   NCBI Sequence Viewer  
  CAA77875 (Get FASTA)   NCBI Sequence Viewer  
  CAA77877 (Get FASTA)   NCBI Sequence Viewer  
  CAC06613 (Get FASTA)   NCBI Sequence Viewer  
  CAC06615 (Get FASTA)   NCBI Sequence Viewer  
  CAH05763 (Get FASTA)   NCBI Sequence Viewer  
  CAM36317 (Get FASTA)   NCBI Sequence Viewer  
  CBJ05777 (Get FASTA)   NCBI Sequence Viewer  
  CBJ21229 (Get FASTA)   NCBI Sequence Viewer  
  CDM63320 (Get FASTA)   NCBI Sequence Viewer  
  EAW56023 (Get FASTA)   NCBI Sequence Viewer  
  P10912 (Get FASTA)   NCBI Sequence Viewer  
  QTJ96339 (Get FASTA)   NCBI Sequence Viewer  
  QTJ96340 (Get FASTA)   NCBI Sequence Viewer  
  QTJ96341 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000154   ⟸   NM_000163
- Peptide Label: isoform 1 precursor
- UniProtKB: P10912 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229329   ⟸   NM_001242400
- Peptide Label: isoform 1 precursor
- UniProtKB: P10912 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229328   ⟸   NM_001242399
- Peptide Label: isoform 2 precursor
- UniProtKB: P10912 (UniProtKB/Swiss-Prot),   A0A087X0H5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229330   ⟸   NM_001242401
- Peptide Label: isoform 1 precursor
- UniProtKB: P10912 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229331   ⟸   NM_001242402
- Peptide Label: isoform 1 precursor
- UniProtKB: P10912 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229332   ⟸   NM_001242403
- Peptide Label: isoform 1 precursor
- UniProtKB: P10912 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229333   ⟸   NM_001242404
- Peptide Label: isoform 1 precursor
- UniProtKB: P10912 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229334   ⟸   NM_001242405
- Peptide Label: isoform 1 precursor
- UniProtKB: P10912 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229335   ⟸   NM_001242406
- Peptide Label: isoform 1 precursor
- UniProtKB: P10912 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229391   ⟸   NM_001242462
- Peptide Label: isoform 5 precursor
- UniProtKB: P10912 (UniProtKB/Swiss-Prot),   A0A087X162 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229389   ⟸   NM_001242460
- Peptide Label: isoform 3 precursor
- UniProtKB: P10912 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000483403   ⟸   ENST00000620156
RefSeq Acc Id: ENSP00000483926   ⟸   ENST00000622294
RefSeq Acc Id: ENSP00000230882   ⟸   ENST00000230882
RefSeq Acc Id: ENSP00000479846   ⟸   ENST00000612626
RefSeq Acc Id: ENSP00000478332   ⟸   ENST00000612382
RefSeq Acc Id: ENSP00000478291   ⟸   ENST00000615111
RefSeq Acc Id: ENSP00000442206   ⟸   ENST00000537449
RefSeq Acc Id: ENSP00000482373   ⟸   ENST00000618088
RefSeq Acc Id: ENSP00000422333   ⟸   ENST00000511135
RefSeq Acc Id: ENSP00000426739   ⟸   ENST00000513671
RefSeq Acc Id: ENSP00000350335   ⟸   ENST00000357703
Protein Domains
Fibronectin type-III

Promoters
RGD ID:6869502
Promoter ID:EPDNEW_H7916
Type:initiation region
Name:GHR_2
Description:growth hormone receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7917  EPDNEW_H7918  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,423,487 - 42,423,547EPDNEW
RGD ID:6869504
Promoter ID:EPDNEW_H7917
Type:initiation region
Name:GHR_1
Description:growth hormone receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7916  EPDNEW_H7918  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,423,734 - 42,423,794EPDNEW
RGD ID:6869506
Promoter ID:EPDNEW_H7918
Type:initiation region
Name:GHR_3
Description:growth hormone receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7916  EPDNEW_H7917  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,548,451 - 42,548,511EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GHR, EX4,6DEL deletion Laron-type isolated somatotropin defect [RCV000009163] Chr5:5p13-p12 pathogenic
NM_000163.5(GHR):c.341T>C (p.Phe114Ser) single nucleotide variant Laron-type isolated somatotropin defect [RCV000009164] Chr5:42694991 [GRCh38]
Chr5:42695093 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.181C>T (p.Arg61Ter) single nucleotide variant Laron-type isolated somatotropin defect [RCV000009165] Chr5:42688934 [GRCh38]
Chr5:42689036 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.168C>A (p.Cys56Ter) single nucleotide variant Laron-type isolated somatotropin defect [RCV000009166] Chr5:42688921 [GRCh38]
Chr5:42689023 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.594A>G (p.Glu198=) single nucleotide variant Laron-type isolated somatotropin defect [RCV000009167] Chr5:42699978 [GRCh38]
Chr5:42700080 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.184G>A (p.Glu62Lys) single nucleotide variant Short stature, idiopathic, autosomal [RCV000009168] Chr5:42688937 [GRCh38]
Chr5:42689039 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) single nucleotide variant Laron-type isolated somatotropin defect [RCV000660368]|Laron-type isolated somatotropin defect [RCV000764609]|Laron-type isolated somatotropin defect [RCV001156022]|Short stature, idiopathic, autosomal [RCV000009169]|not provided [RCV000723957] Chr5:42699919 [GRCh38]
Chr5:42700021 [GRCh37]
Chr5:5p12
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000163.5(GHR):c.726G>C (p.Glu242Asp) single nucleotide variant Short stature, idiopathic, autosomal [RCV000009170] Chr5:42711314 [GRCh38]
Chr5:42711416 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.703C>T (p.Arg235Ter) single nucleotide variant Laron-type isolated somatotropin defect [RCV000009171]|not provided [RCV000760385] Chr5:42711291 [GRCh38]
Chr5:42711393 [GRCh37]
Chr5:5p12
pathogenic
GHR, IVS4DS, G-A, +1 single nucleotide variant Laron-type isolated somatotropin defect [RCV000009172] Chr5:5p13-p12 pathogenic
GHR, 2-BP DEL, FS51TER deletion Laron-type isolated somatotropin defect [RCV000009173] Chr5:5p13-p12 pathogenic
NM_000163.5(GHR):c.619-1G>T single nucleotide variant Laron-type isolated somatotropin defect [RCV000009174] Chr5:42711206 [GRCh38]
Chr5:42711308 [GRCh37]
Chr5:5p12
pathogenic
GHR, 2-BP DEL, FS234TER deletion Laron-type isolated somatotropin defect [RCV000009175] Chr5:5p13-p12 pathogenic
NM_000163.5(GHR):c.875G>C (p.Arg292Thr) single nucleotide variant Laron syndrome with elevated serum GH-binding protein [RCV000009176] Chr5:42713519 [GRCh38]
Chr5:42713621 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.515A>C (p.Gln172Pro) single nucleotide variant Laron-type isolated somatotropin defect [RCV000009177] Chr5:42699899 [GRCh38]
Chr5:42700001 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.876-1G>C single nucleotide variant Short stature, idiopathic, autosomal [RCV000009178] Chr5:42718051 [GRCh38]
Chr5:42718153 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.724G>T (p.Glu242Ter) single nucleotide variant Laron syndrome with undetectable serum GH-binding protein [RCV000009179] Chr5:42711312 [GRCh38]
Chr5:42711414 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.518T>G (p.Val173Gly) single nucleotide variant Laron-type isolated somatotropin defect [RCV000009180] Chr5:42699902 [GRCh38]
Chr5:42700004 [GRCh37]
Chr5:5p12
pathogenic
GHR, 1-BP DEL, FS330TER deletion Laron syndrome with undetectable serum GH-binding protein [RCV000009181] Chr5:5p13-p12 pathogenic
NM_000163.5(GHR):c.945+1G>A single nucleotide variant Laron syndrome with elevated serum GH-binding protein [RCV000009182] Chr5:42718122 [GRCh38]
Chr5:42718224 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.446C>A (p.Pro149Gln) single nucleotide variant Laron syndrome with undetectable serum GH-binding protein [RCV000009183] Chr5:42699830 [GRCh38]
Chr5:42699932 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.484G>A (p.Val162Ile) single nucleotide variant Laron-type isolated somatotropin defect [RCV000987521]|Short stature, idiopathic, autosomal [RCV000009184]|not provided [RCV000711804] Chr5:42699868 [GRCh38]
Chr5:42699970 [GRCh37]
Chr5:5p12
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000163.5(GHR):c.508G>C (p.Asp170His) single nucleotide variant Laron-type isolated somatotropin defect [RCV000009185] Chr5:42699892 [GRCh38]
Chr5:42699994 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.512T>C (p.Ile171Thr) single nucleotide variant Laron-type isolated somatotropin defect [RCV000009186] Chr5:42699896 [GRCh38]
Chr5:42699998 [GRCh37]
Chr5:5p12
pathogenic
GHR, IVS6AS, A-G, -1 single nucleotide variant Laron-type isolated somatotropin defect [RCV000009187] Chr5:5p13-p12 pathogenic
GHR, 22-BP DEL deletion Laron-type isolated somatotropin defect [RCV000009188] Chr5:5p13-p12 pathogenic
NM_000163.5(GHR):c.303C>A (p.Cys101Ter) single nucleotide variant Laron-type isolated somatotropin defect [RCV000009191] Chr5:42694953 [GRCh38]
Chr5:42695055 [GRCh37]
Chr5:5p12
pathogenic
GHR, 1-BP DEL, 1776G deletion Laron-type isolated somatotropin defect [RCV000009192] Chr5:5p13-p12 pathogenic
GHR, EX3DEL deletion Increased responsiveness to growth hormone [RCV000009193] Chr5:5p13-p12 pathogenic
NM_000163.5(GHR):c.335G>C (p.Cys112Ser) single nucleotide variant Laron-type isolated somatotropin defect [RCV000009194] Chr5:42694985 [GRCh38]
Chr5:42695087 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.504T>G (p.His168Gln) single nucleotide variant Laron-type isolated somatotropin defect [RCV000009195] Chr5:42699888 [GRCh38]
Chr5:42699990 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.102G>A (p.Trp34Ter) single nucleotide variant Laron-type isolated somatotropin defect [RCV000009189] Chr5:42629069 [GRCh38]
Chr5:42629171 [GRCh37]
Chr5:5p12
pathogenic
NM_001031679.3(MSRB3):c.483T>C (p.Pro161=) single nucleotide variant Familial hypercholesterolemia 1 [RCV000009190]|Laron-type isolated somatotropin defect [RCV000392579]|Short stature, idiopathic, autosomal [RCV001701562]|not provided [RCV001719693]|not specified [RCV000173652] Chr5:42719137 [GRCh38]
Chr5:42719239 [GRCh37]
Chr5:5p12
risk factor|benign
NM_000163.4(GHR):c.-12+9172G>C single nucleotide variant Lung cancer [RCV000095952] Chr5:42433127 [GRCh38]
Chr5:42433229 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000163.4(GHR):c.-11-14883G>C single nucleotide variant Lung cancer [RCV000095953] Chr5:42550981 [GRCh38]
Chr5:42551083 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.4(GHR):c.136+8337C>T single nucleotide variant Lung cancer [RCV000095955] Chr5:42637440 [GRCh38]
Chr5:42637542 [GRCh37]
Chr5:5p12
uncertain significance
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1
pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12
pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
NM_000163.4(GHR):c.821G>A (p.Gly274Glu) single nucleotide variant Malignant melanoma [RCV000061256] Chr5:42713465 [GRCh38]
Chr5:42713567 [GRCh37]
Chr5:42749324 [NCBI36]
Chr5:5p12
not provided
null single nucleotide variant Laron-type isolated somatotropin defect [RCV000323565]|Short stature, idiopathic, autosomal [RCV001701781]|not provided [RCV001610495]|not specified [RCV000179264] Chr5:42699942 [GRCh38]
Chr5:42700044 [GRCh37]
Chr5:5p12
benign
GRCh38/hg38 5p13.1-12(chr5:41901984-42896060)x1 copy number loss See cases [RCV000134081] Chr5:41901984..42896060 [GRCh38]
Chr5:41902086..42896162 [GRCh37]
Chr5:41937843..42931919 [NCBI36]
Chr5:5p13.1-12
pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p13.1-12(chr5:41876210-42913877)x1 copy number loss See cases [RCV000141916] Chr5:41876210..42913877 [GRCh38]
Chr5:41876312..42913979 [GRCh37]
Chr5:41912069..42949736 [NCBI36]
Chr5:5p13.1-12
uncertain significance
GRCh38/hg38 5p12(chr5:42720837-43251761)x3 copy number gain See cases [RCV000143351] Chr5:42720837..43251761 [GRCh38]
Chr5:42720939..43251863 [GRCh37]
Chr5:42756696..43287620 [NCBI36]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.195A>G (p.Ser65=) single nucleotide variant not provided [RCV000724729]|not specified [RCV000247786] Chr5:42688948 [GRCh38]
Chr5:42689050 [GRCh37]
Chr5:5p12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000163.5(GHR):c.718T>C (p.Tyr240His) single nucleotide variant Laron-type isolated somatotropin defect [RCV000581226]|Seizures [RCV000626627]|Short stature, idiopathic, autosomal [RCV001198886]|not provided [RCV000179726] Chr5:42711306 [GRCh38]
Chr5:42711408 [GRCh37]
Chr5:5p12
pathogenic|uncertain significance
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant Laron-type isolated somatotropin defect [RCV000260935]|not provided [RCV001683405] Chr5:42719724 [GRCh38]
Chr5:42719826 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe) single nucleotide variant Laron-type isolated somatotropin defect [RCV000392588]|not provided [RCV001572964]|not specified [RCV000342816] Chr5:42718826 [GRCh38]
Chr5:42718928 [GRCh37]
Chr5:5p12
benign|likely benign
NM_000163.5(GHR):c.*1539G>A single nucleotide variant Laron-type isolated somatotropin defect [RCV000260019] Chr5:42720963 [GRCh38]
Chr5:42721065 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*1770G>C single nucleotide variant Laron-type isolated somatotropin defect [RCV000263701] Chr5:42721194 [GRCh38]
Chr5:42721296 [GRCh37]
Chr5:5p12
benign|likely benign
NM_000163.5(GHR):c.1735C>A (p.Pro579Thr) single nucleotide variant Laron-type isolated somatotropin defect [RCV000272583]|not provided [RCV001722384]|not specified [RCV000403857] Chr5:42719242 [GRCh38]
Chr5:42719344 [GRCh37]
Chr5:5p12
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12
pathogenic
NM_000163.5(GHR):c.781G>A (p.Glu261Lys) single nucleotide variant not provided [RCV000520150] Chr5:42711369 [GRCh38]
Chr5:42711471 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.945G>A (p.Lys315=) single nucleotide variant Laron-type isolated somatotropin defect [RCV000582894] Chr5:42718121 [GRCh38]
Chr5:42718223 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.619-28A>G single nucleotide variant not provided [RCV001682957]|not specified [RCV000243531] Chr5:42711179 [GRCh38]
Chr5:42711281 [GRCh37]
Chr5:5p12
benign|likely benign
NM_000163.5(GHR):c.*2292A>G single nucleotide variant Laron-type isolated somatotropin defect [RCV000283831] Chr5:42721716 [GRCh38]
Chr5:42721818 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.273T>A (p.Thr91=) single nucleotide variant Laron-type isolated somatotropin defect [RCV000284817]|not provided [RCV000911159] Chr5:42694923 [GRCh38]
Chr5:42695025 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_000163.5(GHR):c.785-22G>A single nucleotide variant not specified [RCV000251385] Chr5:42713407 [GRCh38]
Chr5:42713509 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.1098A>G (p.Leu366=) single nucleotide variant Laron-type isolated somatotropin defect [RCV000349089]|not provided [RCV000865496]|not specified [RCV000242498] Chr5:42718605 [GRCh38]
Chr5:42718707 [GRCh37]
Chr5:5p12
benign|likely benign
NM_000163.5(GHR):c.137-35G>C single nucleotide variant not specified [RCV000247294] Chr5:42688855 [GRCh38]
Chr5:42688957 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.1899G>A (p.Leu633=) single nucleotide variant Laron-type isolated somatotropin defect [RCV000266346] Chr5:42719406 [GRCh38]
Chr5:42719508 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.559T>C (p.Trp187Arg) single nucleotide variant Short stature, idiopathic, autosomal [RCV000240723] Chr5:42699943 [GRCh38]
Chr5:42700045 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.1473C>T (p.Ser491=) single nucleotide variant Laron-type isolated somatotropin defect [RCV000313991]|not provided [RCV001573915]|not specified [RCV000252855] Chr5:42718980 [GRCh38]
Chr5:42719082 [GRCh37]
Chr5:5p12
benign|likely benign
NM_000163.5(GHR):c.-10T>C single nucleotide variant Laron-type isolated somatotropin defect [RCV000272021] Chr5:42565865 [GRCh38]
Chr5:42565967 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.785-9G>A single nucleotide variant Laron-type isolated somatotropin defect [RCV000278778]|not provided [RCV000865495]|not specified [RCV000243184] Chr5:42713420 [GRCh38]
Chr5:42713522 [GRCh37]
Chr5:5p12
benign|likely benign
NM_000163.5(GHR):c.619-29C>T single nucleotide variant not provided [RCV001689777]|not specified [RCV000248253] Chr5:42711178 [GRCh38]
Chr5:42711280 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.*1554G>A single nucleotide variant Laron-type isolated somatotropin defect [RCV000298938] Chr5:42720978 [GRCh38]
Chr5:42721080 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.*542_*543insA insertion Laron-type isolated somatotropin defect [RCV000375374] Chr5:42719966..42719967 [GRCh38]
Chr5:42720068..42720069 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.*781T>A single nucleotide variant Laron-type isolated somatotropin defect [RCV000345488] Chr5:42720205 [GRCh38]
Chr5:42720307 [GRCh37]
Chr5:5p12
benign|likely benign
NM_000163.5(GHR):c.*364C>T single nucleotide variant Laron-type isolated somatotropin defect [RCV000318382] Chr5:42719788 [GRCh38]
Chr5:42719890 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.876-15T>G single nucleotide variant Laron-type isolated somatotropin defect [RCV000402089] Chr5:42718037 [GRCh38]
Chr5:42718139 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.1832C>T (p.Ala611Val) single nucleotide variant Laron-type isolated somatotropin defect [RCV000359134] Chr5:42719339 [GRCh38]
Chr5:42719441 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*1934T>C single nucleotide variant Laron-type isolated somatotropin defect [RCV000380706] Chr5:42721358 [GRCh38]
Chr5:42721460 [GRCh37]
Chr5:5p12
benign|likely benign
NM_000163.5(GHR):c.206C>T (p.Thr69Ile) single nucleotide variant Laron-type isolated somatotropin defect [RCV000377004]|not provided [RCV000872811] Chr5:42688959 [GRCh38]
Chr5:42689061 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_000163.5(GHR):c.1483C>A (p.Pro495Thr) single nucleotide variant Laron-type isolated somatotropin defect [RCV000352481]|not provided [RCV000877955] Chr5:42718990 [GRCh38]
Chr5:42719092 [GRCh37]
Chr5:5p12
benign|likely benign
NM_000163.5(GHR):c.*2294A>G single nucleotide variant Laron-type isolated somatotropin defect [RCV000340989] Chr5:42721718 [GRCh38]
Chr5:42721820 [GRCh37]
Chr5:5p12
benign|uncertain significance
NM_000163.5(GHR):c.*1498TTG[6] microsatellite Laron-type isolated somatotropin defect [RCV000361660] Chr5:42720922..42720924 [GRCh38]
Chr5:42721024..42721026 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.*2169C>T single nucleotide variant Laron-type isolated somatotropin defect [RCV000385147] Chr5:42721593 [GRCh38]
Chr5:42721695 [GRCh37]
Chr5:5p12
likely benign
NM_000163.5(GHR):c.*836G>C single nucleotide variant Laron-type isolated somatotropin defect [RCV000407459] Chr5:42720260 [GRCh38]
Chr5:42720362 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_000163.5(GHR):c.660G>T (p.Leu220Phe) single nucleotide variant Laron-type isolated somatotropin defect [RCV000380451] Chr5:42711248 [GRCh38]
Chr5:42711350 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*913C>T single nucleotide variant Laron-type isolated somatotropin defect [RCV000310365] Chr5:42720337 [GRCh38]
Chr5:42720439 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*629G>A single nucleotide variant Laron-type isolated somatotropin defect [RCV000292471] Chr5:42720053 [GRCh38]
Chr5:42720155 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*36A>T single nucleotide variant Laron-type isolated somatotropin defect [RCV000323772] Chr5:42719460 [GRCh38]
Chr5:42719562 [GRCh37]
Chr5:5p12
uncertain significance
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) single nucleotide variant Laron-type isolated somatotropin defect [RCV000364344]|not provided [RCV001643072] Chr5:42423803 [GRCh38]
Chr5:42423905 [GRCh37]
Chr5:5p13.1
benign
NM_000163.5(GHR):c.1699A>T (p.Ile567Phe) single nucleotide variant Laron-type isolated somatotropin defect [RCV000364812] Chr5:42719206 [GRCh38]
Chr5:42719308 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*692C>A single nucleotide variant Laron-type isolated somatotropin defect [RCV000388033] Chr5:42720116 [GRCh38]
Chr5:42720218 [GRCh37]
Chr5:5p12
benign|likely benign
NM_000163.5(GHR):c.*693G>A single nucleotide variant Laron-type isolated somatotropin defect [RCV000296071] Chr5:42720117 [GRCh38]
Chr5:42720219 [GRCh37]
Chr5:5p12
benign|likely benign
NM_000163.5(GHR):c.875+10G>C single nucleotide variant Laron-type isolated somatotropin defect [RCV000336217]|not provided [RCV000917236] Chr5:42713529 [GRCh38]
Chr5:42713631 [GRCh37]
Chr5:5p12
benign|uncertain significance
NM_000163.5(GHR):c.182G>A (p.Arg61Gln) single nucleotide variant Laron-type isolated somatotropin defect [RCV000329469] Chr5:42688935 [GRCh38]
Chr5:42689037 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*1790G>A single nucleotide variant Laron-type isolated somatotropin defect [RCV000330587] Chr5:42721214 [GRCh38]
Chr5:42721316 [GRCh37]
Chr5:5p12
benign|likely benign
NM_000163.5(GHR):c.*670T>C single nucleotide variant Laron-type isolated somatotropin defect [RCV000349719] Chr5:42720094 [GRCh38]
Chr5:42720196 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*154G>A single nucleotide variant Laron-type isolated somatotropin defect [RCV000371979] Chr5:42719578 [GRCh38]
Chr5:42719680 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.401G>A (p.Gly134Asp) single nucleotide variant not provided [RCV000339396] Chr5:42695051 [GRCh38]
Chr5:42695153 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.1025G>T (p.Trp342Leu) single nucleotide variant Laron-type isolated somatotropin defect [RCV000282166] Chr5:42718532 [GRCh38]
Chr5:42718634 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.585A>G (p.Gln195=) single nucleotide variant not provided [RCV000377768] Chr5:42699969 [GRCh38]
Chr5:42700071 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.1088A>G (p.Asp363Gly) single nucleotide variant not provided [RCV000280961] Chr5:42718595 [GRCh38]
Chr5:42718697 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*1892T>A single nucleotide variant Laron-type isolated somatotropin defect [RCV000275752] Chr5:42721316 [GRCh38]
Chr5:42721418 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.686G>A (p.Arg229His) single nucleotide variant Laron-type isolated somatotropin defect [RCV001156023]|Short stature, idiopathic, autosomal [RCV000660599]|not provided [RCV000724936]|not specified [RCV000292438] Chr5:42711274 [GRCh38]
Chr5:42711376 [GRCh37]
Chr5:5p12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000163.5(GHR):c.497G>A (p.Gly166Glu) single nucleotide variant Short stature, idiopathic, autosomal [RCV000490420] Chr5:42699881 [GRCh38]
Chr5:42699983 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*2042A>G single nucleotide variant Laron-type isolated somatotropin defect [RCV000347042] Chr5:42721466 [GRCh38]
Chr5:42721568 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*1253_*1256del deletion Laron-type isolated somatotropin defect [RCV000304760] Chr5:42720674..42720677 [GRCh38]
Chr5:42720776..42720779 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*1916T>G single nucleotide variant Laron-type isolated somatotropin defect [RCV000333173] Chr5:42721340 [GRCh38]
Chr5:42721442 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*1847T>G single nucleotide variant Laron-type isolated somatotropin defect [RCV000387471] Chr5:42721271 [GRCh38]
Chr5:42721373 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.1640C>T (p.Ala547Val) single nucleotide variant Laron-type isolated somatotropin defect [RCV000307722] Chr5:42719147 [GRCh38]
Chr5:42719249 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*981G>A single nucleotide variant Laron-type isolated somatotropin defect [RCV000407467] Chr5:42720405 [GRCh38]
Chr5:42720507 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*941A>G single nucleotide variant Laron-type isolated somatotropin defect [RCV000339525] Chr5:42720365 [GRCh38]
Chr5:42720467 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*1689A>T single nucleotide variant Laron-type isolated somatotropin defect [RCV000356071] Chr5:42721113 [GRCh38]
Chr5:42721215 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*2018T>C single nucleotide variant Laron-type isolated somatotropin defect [RCV000289730] Chr5:42721442 [GRCh38]
Chr5:42721544 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.1788C>G (p.Thr596=) single nucleotide variant Laron-type isolated somatotropin defect [RCV000301981] Chr5:42719295 [GRCh38]
Chr5:42719397 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.-6A>G single nucleotide variant Laron-type isolated somatotropin defect [RCV001152147] Chr5:42565869 [GRCh38]
Chr5:42565971 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.12G>C (p.Trp4Cys) single nucleotide variant Laron-type isolated somatotropin defect [RCV000582223] Chr5:42565886 [GRCh38]
Chr5:42565988 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.364T>C (p.Trp122Arg) single nucleotide variant Laron-type isolated somatotropin defect [RCV000581563] Chr5:42695014 [GRCh38]
Chr5:42695116 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.*1611G>A single nucleotide variant Laron-type isolated somatotropin defect [RCV001152366] Chr5:42721035 [GRCh38]
Chr5:42721137 [GRCh37]
Chr5:5p12
likely benign
NM_000163.5(GHR):c.99C>G (p.Pro33=) single nucleotide variant Laron-type isolated somatotropin defect [RCV001153427]|not provided [RCV000872631]|not specified [RCV000729316] Chr5:42629066 [GRCh38]
Chr5:42629168 [GRCh37]
Chr5:5p12
benign|uncertain significance
NM_000163.5(GHR):c.1686A>G (p.Gln562=) single nucleotide variant not provided [RCV000595138] Chr5:42719193 [GRCh38]
Chr5:42719295 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p13.1-12(chr5:42486051-42705697)x3 copy number gain See cases [RCV000449392] Chr5:42486051..42705697 [GRCh37]
Chr5:5p13.1-12
uncertain significance
NM_000163.5(GHR):c.281G>A (p.Trp94Ter) single nucleotide variant Laron-type isolated somatotropin defect [RCV000449581] Chr5:42694931 [GRCh38]
Chr5:42695033 [GRCh37]
Chr5:5p12
pathogenic|likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11
likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_000163.5(GHR):c.239G>T (p.Gly80Val) single nucleotide variant not provided [RCV000522157] Chr5:42688992 [GRCh38]
Chr5:42689094 [GRCh37]
Chr5:5p12
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5p13.1-12(chr5:42488411-42705764)x3 copy number gain not provided [RCV000682550] Chr5:42488411..42705764 [GRCh37]
Chr5:5p13.1-12
uncertain significance
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12
pathogenic
GRCh37/hg19 5p13.1-12(chr5:41879642-42911463)x1 copy number loss not provided [RCV000682549] Chr5:41879642..42911463 [GRCh37]
Chr5:5p13.1-12
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p12(chr5:42626206-42630984)x0 copy number loss not provided [RCV000744672] Chr5:42626206..42630984 [GRCh37]
Chr5:5p12
benign
GRCh37/hg19 5p12(chr5:42626206-42631264)x0 copy number loss not provided [RCV000744673] Chr5:42626206..42631264 [GRCh37]
Chr5:5p12
benign
GRCh37/hg19 5p12(chr5:42628844-42630984)x0 copy number loss not provided [RCV000744674] Chr5:42628844..42630984 [GRCh37]
Chr5:5p12
benign
GRCh37/hg19 5p12(chr5:42628994-42630294)x1 copy number loss not provided [RCV000744675] Chr5:42628994..42630294 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.968A>G (p.Asn323Ser) single nucleotide variant not provided [RCV000875425] Chr5:42718475 [GRCh38]
Chr5:42718577 [GRCh37]
Chr5:5p12
likely benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001679439] Chr5:42701922 [GRCh38]
Chr5:42702024 [GRCh37]
Chr5:5p12
benign
NM_000085.5(CLCNKB):c.101-50G>C microsatellite not provided [RCV001679129] Chr5:42424171..42424172 [GRCh38]
Chr5:42424273..42424274 [GRCh37]
Chr5:5p13.1
benign
NM_000163.5(GHR):c.-11-1G>C single nucleotide variant not provided [RCV001568816] Chr5:42565863 [GRCh38]
Chr5:42565965 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.1464C>T (p.Ala488=) single nucleotide variant not provided [RCV000921564] Chr5:42718971 [GRCh38]
Chr5:42719073 [GRCh37]
Chr5:5p12
likely benign
NM_000163.5(GHR):c.267-2A>G single nucleotide variant Laron-type isolated somatotropin defect [RCV001078202] Chr5:42694915 [GRCh38]
Chr5:42695017 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.1752T>C (p.His584=) single nucleotide variant not provided [RCV000876236] Chr5:42719259 [GRCh38]
Chr5:42719361 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.1542T>G (p.Cys514Trp) single nucleotide variant Laron-type isolated somatotropin defect [RCV001152251]|not provided [RCV000872879] Chr5:42719049 [GRCh38]
Chr5:42719151 [GRCh37]
Chr5:5p12
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11
pathogenic
NM_000163.5(GHR):c.*1032T>C single nucleotide variant Laron-type isolated somatotropin defect [RCV001152364] Chr5:42720456 [GRCh38]
Chr5:42720558 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3 copy number gain not provided [RCV001005674] Chr5:38432180..49441945 [GRCh37]
Chr5:5p13.1-q11.1
pathogenic
NM_000163.5(GHR):c.1861T>A (p.Phe621Ile) single nucleotide variant not provided [RCV000998378] Chr5:42719368 [GRCh38]
Chr5:42719470 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p12(chr5:42600658-42844121)x3 copy number gain not provided [RCV000846473] Chr5:42600658..42844121 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.555_558delinsGGG (p.Trp187fs) indel not provided [RCV001008333] Chr5:42699939..42699942 [GRCh38]
Chr5:42700041..42700044 [GRCh37]
Chr5:5p12
likely pathogenic
NM_000163.5(GHR):c.1003G>A (p.Glu335Lys) single nucleotide variant Short stature, idiopathic, autosomal [RCV001195898] Chr5:42718510 [GRCh38]
Chr5:42718612 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.344A>C (p.Asn115Thr) single nucleotide variant Laron-type isolated somatotropin defect [RCV000995550] Chr5:42694994 [GRCh38]
Chr5:42695096 [GRCh37]
Chr5:5p12
likely pathogenic
NM_000163.5(GHR):c.*1747G>A single nucleotide variant Laron-type isolated somatotropin defect [RCV001153649] Chr5:42721171 [GRCh38]
Chr5:42721273 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.814A>G (p.Ile272Val) single nucleotide variant Laron-type isolated somatotropin defect [RCV001157740] Chr5:42713458 [GRCh38]
Chr5:42713560 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.192_193del (p.Ser65fs) deletion not provided [RCV001573917] Chr5:42688942..42688943 [GRCh38]
Chr5:42689044..42689045 [GRCh37]
Chr5:5p12
pathogenic
NM_000163.5(GHR):c.536G>A (p.Arg179His) single nucleotide variant not provided [RCV001577849] Chr5:42699920 [GRCh38]
Chr5:42700022 [GRCh37]
Chr5:5p12
uncertain significance
NM_004360.5(CDH1):c.49-8C>T microsatellite not provided [RCV001715637] Chr5:42424171..42424172 [GRCh38]
Chr5:42424273..42424274 [GRCh37]
Chr5:5p13.1
benign
null single nucleotide variant not provided [RCV001671043] Chr5:42717890 [GRCh38]
Chr5:42717992 [GRCh37]
Chr5:5p12
benign
null single nucleotide variant not provided [RCV001694933] Chr5:42710998 [GRCh38]
Chr5:42711100 [GRCh37]
Chr5:5p12
benign
null single nucleotide variant not provided [RCV001665992] Chr5:42689438 [GRCh38]
Chr5:42689540 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.439+9C>T single nucleotide variant not provided [RCV000872149] Chr5:42695098 [GRCh38]
Chr5:42695200 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.927C>T (p.Ile309=) single nucleotide variant not provided [RCV000942359] Chr5:42718103 [GRCh38]
Chr5:42718205 [GRCh37]
Chr5:5p12
likely benign
NM_000163.5(GHR):c.267-3T>C single nucleotide variant Laron-type isolated somatotropin defect [RCV001153429]|not provided [RCV001572965] Chr5:42694914 [GRCh38]
Chr5:42695016 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_000163.5(GHR):c.1745G>A (p.Gly582Glu) single nucleotide variant Laron-type isolated somatotropin defect [RCV001153535] Chr5:42719252 [GRCh38]
Chr5:42719354 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.68A>G (p.Glu23Gly) single nucleotide variant Laron-type isolated somatotropin defect [RCV001152148] Chr5:42565942 [GRCh38]
Chr5:42566044 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*1531G>A single nucleotide variant Laron-type isolated somatotropin defect [RCV001152365] Chr5:42720955 [GRCh38]
Chr5:42721057 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*390A>G single nucleotide variant Laron-type isolated somatotropin defect [RCV001156150] Chr5:42719814 [GRCh38]
Chr5:42719916 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.-150C>A single nucleotide variant Laron-type isolated somatotropin defect [RCV001157619] Chr5:42423817 [GRCh38]
Chr5:42423919 [GRCh37]
Chr5:5p13.1
likely benign
NM_000163.5(GHR):c.1146C>T (p.Gly382=) single nucleotide variant Laron-type isolated somatotropin defect [RCV001152250]|not provided [RCV000890270] Chr5:42718653 [GRCh38]
Chr5:42718755 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_000163.5(GHR):c.82A>G (p.Ile28Val) single nucleotide variant Laron-type isolated somatotropin defect [RCV001153426]|not provided [RCV000913004] Chr5:42629049 [GRCh38]
Chr5:42629151 [GRCh37]
Chr5:5p12
benign|uncertain significance
null single nucleotide variant not provided [RCV001595701] Chr5:42718320 [GRCh38]
Chr5:42718422 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.*534G>C single nucleotide variant Laron-type isolated somatotropin defect [RCV001156153] Chr5:42719958 [GRCh38]
Chr5:42720060 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*1936T>C single nucleotide variant Laron-type isolated somatotropin defect [RCV001156247] Chr5:42721360 [GRCh38]
Chr5:42721462 [GRCh37]
Chr5:5p12
likely benign
NM_000163.5(GHR):c.*2376A>G single nucleotide variant Laron-type isolated somatotropin defect [RCV001156248] Chr5:42721800 [GRCh38]
Chr5:42721902 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.-118C>T single nucleotide variant Laron-type isolated somatotropin defect [RCV001152142] Chr5:42423849 [GRCh38]
Chr5:42423951 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000163.5(GHR):c.-39G>C single nucleotide variant Laron-type isolated somatotropin defect [RCV001152146] Chr5:42423928 [GRCh38]
Chr5:42424030 [GRCh37]
Chr5:5p13.1
benign
NM_000163.5(GHR):c.*832G>A single nucleotide variant Laron-type isolated somatotropin defect [RCV001157838] Chr5:42720256 [GRCh38]
Chr5:42720358 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.440-7T>C single nucleotide variant Laron-type isolated somatotropin defect [RCV001153430] Chr5:42699817 [GRCh38]
Chr5:42699919 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*1797G>C single nucleotide variant Laron-type isolated somatotropin defect [RCV001153650] Chr5:42721221 [GRCh38]
Chr5:42721323 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.-89G>T single nucleotide variant Laron-type isolated somatotropin defect [RCV001152143] Chr5:42423878 [GRCh38]
Chr5:42423980 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000163.5(GHR):c.-76C>T single nucleotide variant Laron-type isolated somatotropin defect [RCV001152144] Chr5:42423891 [GRCh38]
Chr5:42423993 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000163.5(GHR):c.1601A>G (p.Tyr534Cys) single nucleotide variant Laron-type isolated somatotropin defect [RCV001152252] Chr5:42719108 [GRCh38]
Chr5:42719210 [GRCh37]
Chr5:5p12
uncertain significance
null single nucleotide variant not provided [RCV001691216] Chr5:42695369 [GRCh38]
Chr5:42695471 [GRCh37]
Chr5:5p12
benign
null deletion not provided [RCV001694415] Chr5:42713371 [GRCh38]
Chr5:42713473 [GRCh37]
Chr5:5p12
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001678880] Chr5:42701054 [GRCh38]
Chr5:42701156 [GRCh37]
Chr5:5p12
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001651820] Chr5:42566064 [GRCh38]
Chr5:42566166 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.653A>G (p.Tyr218Cys) single nucleotide variant not provided [RCV001545379] Chr5:42711241 [GRCh38]
Chr5:42711343 [GRCh37]
Chr5:5p12
uncertain significance
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001679356] Chr5:42718233 [GRCh38]
Chr5:42718335 [GRCh37]
Chr5:5p12
benign
NM_000163.5(GHR):c.-12+643G>A single nucleotide variant Short stature, idiopathic, autosomal [RCV001198379] Chr5:42424598 [GRCh38]
Chr5:42424700 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000163.5(GHR):c.-74C>T single nucleotide variant Laron-type isolated somatotropin defect [RCV001152145] Chr5:42423893 [GRCh38]
Chr5:42423995 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_000163.5(GHR):c.486C>T (p.Val162=) single nucleotide variant Laron-type isolated somatotropin defect [RCV001156021] Chr5:42699870 [GRCh38]
Chr5:42699972 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*61C>T single nucleotide variant Laron-type isolated somatotropin defect [RCV001156149] Chr5:42719485 [GRCh38]
Chr5:42719587 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*474C>A single nucleotide variant Laron-type isolated somatotropin defect [RCV001156152] Chr5:42719898 [GRCh38]
Chr5:42720000 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.169C>T (p.Arg57Cys) single nucleotide variant Laron-type isolated somatotropin defect [RCV001153428] Chr5:42688922 [GRCh38]
Chr5:42689024 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.724G>A (p.Glu242Lys) single nucleotide variant Laron-type isolated somatotropin defect [RCV001157738] Chr5:42711312 [GRCh38]
Chr5:42711414 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.743A>G (p.Tyr248Cys) single nucleotide variant Laron-type isolated somatotropin defect [RCV001157739] Chr5:42711331 [GRCh38]
Chr5:42711433 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.1002C>T (p.Pro334=) single nucleotide variant Laron-type isolated somatotropin defect [RCV001157741] Chr5:42718509 [GRCh38]
Chr5:42718611 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*724G>T single nucleotide variant Laron-type isolated somatotropin defect [RCV001157837] Chr5:42720148 [GRCh38]
Chr5:42720250 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.1664A>G (p.His555Arg) single nucleotide variant Laron-type isolated somatotropin defect [RCV001153534] Chr5:42719171 [GRCh38]
Chr5:42719273 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.*461T>G single nucleotide variant Laron-type isolated somatotropin defect [RCV001156151] Chr5:42719885 [GRCh38]
Chr5:42719987 [GRCh37]
Chr5:5p12
uncertain significance
NM_000163.5(GHR):c.-176A>G single nucleotide variant Laron-type isolated somatotropin defect [RCV001157618] Chr5:42423791 [GRCh38]
Chr5:42423893 [GRCh37]
Chr5:5p13.1
uncertain significance
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12
pathogenic
NM_000163.5(GHR):c.875+5G>A single nucleotide variant See cases [RCV001420251] Chr5:42713524 [GRCh38]
Chr5:42713626 [GRCh37]
Chr5:5p12
likely pathogenic
NM_000163.5(GHR):c.476T>A (p.Leu159Ter) single nucleotide variant See cases [RCV001420250] Chr5:42699860 [GRCh38]
Chr5:42699962 [GRCh37]
Chr5:5p12
likely pathogenic
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11
pathogenic
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001715255] Chr5:42701884 [GRCh38]
Chr5:42701986 [GRCh37]
Chr5:5p12
benign
null single nucleotide variant not provided [RCV001612474] Chr5:42565741 [GRCh38]
Chr5:42565843 [GRCh37]
Chr5:5p12
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4263 AgrOrtholog
COSMIC GHR COSMIC
Ensembl Genes ENSG00000112964 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000230882 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000350335 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000422333 UniProtKB/TrEMBL
  ENSP00000426739 UniProtKB/TrEMBL
  ENSP00000442206 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478291 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478332 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479846 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482373 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000483403 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000483926 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000230882 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000357703 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000511135 UniProtKB/TrEMBL
  ENST00000513671 UniProtKB/TrEMBL
  ENST00000537449 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000612382 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000612626 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000615111 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000618088 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000620156 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000622294 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112964 GTEx
HGNC ID HGNC:4263 ENTREZGENE
Human Proteome Map GHR Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth/epo_recpt_lig-bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Long_hematopoietin_rcpt_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2690 UniProtKB/Swiss-Prot
NCBI Gene 2690 ENTREZGENE
OMIM 143890 OMIM
  262500 OMIM
  600946 OMIM
  604271 OMIM
Pfam EpoR_lig-bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB GHR RGD, PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMATOPO_REC_L_F1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X0H5 ENTREZGENE, UniProtKB/TrEMBL
  A0A087X162 ENTREZGENE, UniProtKB/TrEMBL
  A0A8A6U7T3_HUMAN UniProtKB/TrEMBL
  A0A8A6UB81_HUMAN UniProtKB/TrEMBL
  A0A8A6UC02_HUMAN UniProtKB/TrEMBL
  B9EGJ3_HUMAN UniProtKB/TrEMBL
  E7ES05_HUMAN UniProtKB/TrEMBL
  E9PCN7_HUMAN UniProtKB/TrEMBL
  GHR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9HCW9_HUMAN UniProtKB/TrEMBL
  Q9NRZ8_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q9HCX2 UniProtKB/Swiss-Prot