EGF (epidermal growth factor) - Rat Genome Database

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Gene: EGF (epidermal growth factor) Homo sapiens
Analyze
Symbol: EGF
Name: epidermal growth factor
RGD ID: 736832
HGNC Page HGNC:3229
Description: Enables growth factor activity; guanyl-nucleotide exchange factor activity; and transmembrane receptor protein tyrosine kinase activator activity. Involved in several processes, including positive regulation of macromolecule metabolic process; positive regulation of signal transduction; and regulation of protein localization. Acts upstream of or within positive regulation of cell population proliferation. Located in extracellular exosome. Is active in extracellular space. Implicated in several diseases, including Zollinger-Ellison syndrome; hepatobiliary system cancer (multiple); high grade glioma (multiple); lung non-small cell carcinoma (multiple); and primary hypomagnesemia (multiple). Biomarker of several diseases, including acute kidney failure; lupus nephritis; neurodegenerative disease (multiple); pancreatic cancer (multiple); and pancreatitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-urogastrone; HOMG4; pro-epidermal growth factor; URG
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh384109,912,883 - 110,013,766 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4109,912,883 - 110,013,766 (+)EnsemblGRCh38hg38GRCh38
GRCh374110,834,039 - 110,934,922 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364111,053,499 - 111,152,868 (+)NCBINCBI36Build 36hg18NCBI36
Build 344111,191,653 - 111,291,023NCBI
Celera4108,127,771 - 108,227,842 (+)NCBICelera
Cytogenetic Map4q25NCBI
HuRef4106,566,131 - 106,666,223 (+)NCBIHuRef
CHM1_14110,810,552 - 110,910,629 (+)NCBICHM1_1
T2T-CHM13v2.04113,214,975 - 113,315,858 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (IEP,ISO)
adenocarcinoma  (EXP)
AIDS-Associated Nephropathy  (IEP)
Alzheimer's disease  (IEP)
autistic disorder  (EXP)
Breast Neoplasms  (EXP)
cholangiocarcinoma  (IAGP)
cleft palate  (EXP)
dermatitis  (EXP)
Diabetic Nephropathies  (IEP)
Disease Progression  (EXP)
endometrial cancer  (IAGP)
Endometrial Neoplasms  (IEP)
Experimental Liver Cirrhosis  (EXP)
gallbladder cancer  (IAGP,IEP)
gastric ulcer  (EXP)
genetic disease  (IAGP)
Genetic Predisposition to Disease  (EXP)
glioblastoma  (EXP,IAGP)
Helicobacter Infections  (IEP)
hepatocellular carcinoma  (EXP,IAGP)
hereditary renal cell carcinoma  (IAGP)
high grade glioma  (IAGP)
inclusion body myopathy with Paget disease of bone and frontotemporal dementia  (IEP)
juvenile rheumatoid arthritis  (EXP)
kidney disease  (EXP)
lung adenocarcinoma  (IAGP)
lung non-small cell carcinoma  (IDA,IEP)
lupus nephritis  (IEP)
Metaplasia  (EXP)
Neoplasm Invasiveness  (EXP)
Neoplasm Metastasis  (EXP)
Neoplastic Cell Transformation  (EXP)
oligodendroglioma  (IAGP)
ovarian cancer  (IEP)
pancreatic cancer  (IEP,TAS)
pancreatic ductal carcinoma  (IEP)
pancreatitis  (IEP)
Parkinson's disease  (IEP)
perinatal necrotizing enterocolitis  (ISO)
pneumonia  (ISO)
pre-malignant neoplasm  (EXP)
primary hypomagnesemia  (IAGP)
Prostatic Neoplasms  (EXP)
pulmonary fibrosis  (EXP)
renal hypomagnesemia 3  (IAGP)
renal hypomagnesemia 4  (EXP,IAGP)
renal hypomagnesemia 5 with ocular involvement  (IAGP)
Reperfusion Injury  (EXP,IDA)
schizophrenia  (IEP)
shigellosis  (ISO)
Tympanic Membrane Perforation  (IDA)
Wounds and Injuries  (EXP,ISO)
Zollinger-Ellison syndrome  (IDA)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(+)-taxifolin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(20S)-ginsenoside Rg3  (EXP)
(5Z,8Z,11Z,13E)-15-HETE  (EXP)
(R)-noradrenaline  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
11-deoxycorticosterone  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 17-glucosiduronic acid  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2',3'-dideoxyadenosine  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-Hydroxy-6-(8,11,14-pentadecatrienyl)benzoic acid  (EXP)
2-methoxy-17beta-estradiol  (EXP)
2-methyl-2-[4-(1,2,3,4-tetrahydronaphthalen-1-yl)phenoxy]propanoic acid  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-dihydrocoumarin  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4,5-dianilinophthalimide  (ISO)
4-tert-Octylphenol  (ISO)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
6-chrysenamine  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (ISO)
8-Hydroxyguanosine  (ISO)
acetaldehyde  (EXP)
actinomycin D  (ISO)
adenosine  (EXP)
afatinib  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-hexachlorocyclohexane  (ISO)
amiodarone  (EXP)
ammonium chloride  (ISO)
amsacrine  (EXP)
androgen antagonist  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
arotinoid acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
asparagine  (ISO)
atrazine  (EXP)
bacitracin  (ISO)
bafilomycin A1  (ISO)
baicalein  (EXP)
baicalin  (EXP)
belinostat  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (ISO)
benzoic acid  (ISO)
berberine  (EXP)
bexarotene  (ISO)
bicalutamide  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bucladesine  (EXP)
butan-1-ol  (ISO)
Butylparaben  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP,ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
Calphostin C  (ISO)
canertinib  (EXP)
cannabidiol  (EXP)
capsaicin  (EXP,ISO)
CGP 52608  (EXP)
chelerythrine  (EXP)
CHIR 99021  (EXP)
chlordecone  (ISO)
chlorogenic acid  (EXP)
chloroquine  (EXP,ISO)
chlorpyrifos  (ISO)
cholesterol  (EXP)
chrysin  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
Clivoline  (EXP)
cobalt dichloride  (EXP)
colforsin daropate hydrochloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
cordycepin  (EXP,ISO)
cortisol  (EXP)
crizotinib  (EXP)
crocidolite asbestos  (EXP,ISO)
curcumin  (EXP,ISO)
cycloheximide  (ISO)
cyclosporin A  (EXP,ISO)
cyproterone acetate  (ISO)
cytochalasin D  (ISO)
D-glucose  (EXP)
dactolisib  (EXP)
daunorubicin  (EXP)
DDE  (ISO)
DDT  (ISO)
deoxynivalenol  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
disodium selenite  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (ISO)
entinostat  (EXP)
enzacamene  (ISO)
enzyme inhibitor  (ISO)
epoxiconazole  (ISO)
erlotinib hydrochloride  (EXP,ISO)
ethanol  (ISO)
ethanolamine  (EXP)
etoposide  (EXP)
farnesol  (EXP)
finasteride  (ISO)
flurbiprofen  (ISO)
flutamide  (ISO)
fructose  (ISO)
fulvestrant  (EXP,ISO)
galangin  (EXP)
gallic acid  (EXP)
gefitinib  (EXP,ISO)
geldanamycin  (ISO)
gemcitabine  (EXP)
genistein  (EXP,ISO)
gentamycin  (EXP,ISO)
geranylgeraniol  (EXP)
glafenine  (ISO)
glucose  (EXP)
glutathione  (ISO)
Glutethimide  (ISO)
glycidol  (ISO)
Goe 6976  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
gossypin  (ISO)
heparin  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroxamic acid  (ISO)
ibuprofen  (EXP)
icariside II  (EXP)
ICI-164384  (EXP)
indometacin  (EXP,ISO)
inulin  (EXP)
ionomycin  (EXP)
ketoconazole  (EXP)
L-arginine  (ISO)
L-aspartic acid  (ISO)
L-isoleucine  (ISO)
L-leucine  (ISO)
L-lysine  (ISO)
L-methionine  (ISO)
L-phenylalanine  (ISO)
lead diacetate  (EXP)
leflunomide  (EXP)
leptomycin B  (EXP)
leupeptin  (EXP)
linuron  (ISO)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (EXP)
lovastatin  (EXP)
luteolin  (EXP)
LY294002  (EXP,ISO)
Maduramicin  (ISO)
magnesium dichloride  (EXP)
manganese(II) chloride  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
mestranol  (ISO)
methoxyacetic acid  (EXP)
methyl beta-cyclodextrin  (ISO)
methylmercury chloride  (EXP)
mibolerone  (ISO)
midostaurin  (EXP)
mifepristone  (EXP,ISO)
mitomycin C  (EXP)
ML-7  (ISO)
monensin A  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
muramyl dipeptide  (ISO)
myricetin  (ISO)
N(6)-butyryl-cAMP  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-acetylsphingosine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-methylnicotinate  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nafenopin  (ISO)
naringin  (EXP)
nefazodone  (ISO)
nevirapine  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP)
niclosamide  (EXP)
nimesulide  (ISO)
nitenpyram  (EXP)
nitrofen  (ISO)
nocodazole  (EXP)
okadaic acid  (ISO)
omeprazole  (ISO)
oridonin  (EXP)
ornithine  (ISO)
Osajin  (EXP)
osimertinib  (EXP)
oxidopamine  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
p-tert-Amylphenol  (ISO)
paclitaxel  (EXP)
pamidronate  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorooctanoic acid  (ISO)
perifosine  (EXP)
permethrin  (ISO)
peroxides  (ISO)
phenanthrolines  (ISO)
phencyclidine  (ISO)
phenobarbital  (EXP,ISO)
phenylarsine oxide  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
PhIP  (EXP)
phorbol 13-acetate 12-myristate  (EXP,ISO)
phosphatidic acid  (ISO)
pioglitazone  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
Pomiferin  (EXP)
primaquine  (EXP)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (EXP,ISO)
prostaglandin D2  (ISO)
prostaglandin E2  (EXP)
protein kinase inhibitor  (ISO)
pterostilbene  (EXP)
puerarin  (EXP)
pyrrolidine dithiocarbamate  (EXP)
quartz  (ISO)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-glucofuranoside  (EXP)
quercetin 3-O-beta-D-glucopyranoside  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
Rhein  (EXP)
Ro 31-8220  (ISO)
Rosavin  (EXP)
rotenone  (EXP,ISO)
rutin  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 203580  (EXP,ISO)
SB 431542  (EXP)
selenium atom  (ISO)
sepantronium  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Sodium salicylate  (ISO)
sorafenib  (EXP)
sotorasib  (EXP)
stattic  (EXP)
staurosporine  (EXP,ISO)
sulfasalazine  (ISO)
sulindac  (EXP)
sunitinib  (EXP)
Swertiamarin  (ISO)
T-2 toxin  (EXP)
tamoxifen  (EXP)
taurine  (ISO)
tephrosin  (EXP)
teriflunomide  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
tetrathiomolybdate(2-)  (EXP)
thapsigargin  (EXP)
theaflavin  (EXP)
Theaflavin 3,3'-digallate  (EXP,ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trametinib  (EXP)
triadimefon  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP,ISO)
triphenyl phosphate  (EXP)
tyrosine  (ISO)
tyrphostin AG 1478  (EXP,ISO)
urethane  (ISO)
valine  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP,ISO)
wortmannin  (EXP,ISO)
XL147  (ISO)
Y-27632  (ISO)
zinc atom  (EXP,ISO)
zinc sulfate  (ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IDA)
branching morphogenesis of an epithelial tube  (IEA,ISO)
cell population proliferation  (IEA,ISO)
cerebellar granule cell precursor proliferation  (IEA,ISO)
epidermal growth factor receptor signaling pathway  (IBA,IDA,IEA,IMP,ISO)
epithelial cell proliferation  (IEA,ISO)
ERBB2-EGFR signaling pathway  (IDA,IEA)
ERK1 and ERK2 cascade  (IDA)
kidney development  (ISO)
mammary gland alveolus development  (IEA,ISO)
negative regulation of cholesterol efflux  (IEA)
negative regulation of secretion  (IDA)
positive regulation of canonical Wnt signaling pathway  (IDA)
positive regulation of cell migration  (IDA)
positive regulation of cell population proliferation  (IBA,IDA,IEA,IMP)
positive regulation of cerebellar granule cell precursor proliferation  (IEA,ISO)
positive regulation of DNA biosynthetic process  (ISO)
positive regulation of DNA-templated transcription  (IDA)
positive regulation of endothelial cell migration  (IDA)
positive regulation of endothelial cell proliferation  (IDA)
positive regulation of epithelial cell proliferation  (IEA,ISO)
positive regulation of epithelial tube formation  (IDA)
positive regulation of ERK1 and ERK2 cascade  (ISO)
positive regulation of fibroblast proliferation  (ISO)
positive regulation of gene expression  (IDA)
positive regulation of hyaluronan biosynthetic process  (IDA)
positive regulation of MAPK cascade  (IBA,IDA,IEA,IMP,ISO)
positive regulation of mitotic nuclear division  (IDA,IEA)
positive regulation of peptidyl-threonine phosphorylation  (IDA)
positive regulation of peptidyl-tyrosine phosphorylation  (IEA,ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IDA,IGI)
positive regulation of phosphorylation  (IDA)
positive regulation of protein localization to early endosome  (IDA)
positive regulation of receptor internalization  (IDA)
positive regulation of ubiquitin-dependent protein catabolic process  (IEA)
regulation of calcium ion import  (IDA)
regulation of peptidyl-tyrosine phosphorylation  (IEA,ISO)
regulation of protein localization to cell surface  (IDA)
regulation of protein transport  (ISO)
regulation of receptor signaling pathway via JAK-STAT  (IEA,ISS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Repair of chronic tympanic membrane perforations using epidermal growth factor. Amoils CP, etal., Otolaryngol Head Neck Surg. 1992 Nov;107(5):669-83.
2. Serum levels of epidermal growth factor, transforming growth factor, and c-erbB2 in ovarian cancer. Balcan E, etal., Int J Gynecol Cancer. 2012 Sep;22(7):1138-42. doi: 10.1097/IGC.0b013e31825b7dcc.
3. Serum calprotectin, CD26 and EGF to establish a panel for the diagnosis of lung cancer. Blanco-Prieto S, etal., PLoS One. 2015 May 18;10(5):e0127318. doi: 10.1371/journal.pone.0127318. eCollection 2015.
4. [Effects of Wenshen Jianpi Recipe on chronic wound healing in rats]. Cao YQ, etal., Zhong Xi Yi Jie He Xue Bao. 2005 May;3(3):220-4.
5. Plasma epidermal growth factor levels predict cognitive decline in Parkinson disease. Chen-Plotkin AS, etal., Ann Neurol. 2011 Apr;69(4):655-63. doi: 10.1002/ana.22271. Epub 2010 Nov 29.
6. Use of growth-hormone-releasing peptide-6 (GHRP-6) for the prevention of multiple organ failure. Cibrian D, etal., Clin Sci (Lond). 2006 May;110(5):563-73.
7. Association between functional EGF+61 polymorphism and glioma risk. Costa BM, etal., Clin Cancer Res. 2007 May 1;13(9):2621-6. doi: 10.1158/1078-0432.CCR-06-2606.
8. Analysis of EGF+61A>G polymorphism and EGF serum levels in Brazilian glioma patients treated with perillyl alcohol-based therapy. da Silveira Fd, etal., J Cancer Res Clin Oncol. 2012 Aug;138(8):1347-54. doi: 10.1007/s00432-012-1203-5. Epub 2012 Apr 6.
9. Cytokine profiling in patients with VCP-associated disease. Dec E, etal., Clin Transl Sci. 2014 Feb;7(1):29-32. doi: 10.1111/cts.12117. Epub 2013 Oct 3.
10. Epidermal growth factor improves survival and prevents intestinal injury in a murine model of pseudomonas aeruginosa pneumonia. Dominguez JA, etal., Shock. 2011 Oct;36(4):381-9.
11. Comparison of epidermal growth factor and heparin-binding epidermal growth factor-like growth factor for prevention of experimental necrotizing enterocolitis. Dvorak B, etal., J Pediatr Gastroenterol Nutr. 2008 Jul;47(1):11-8. doi: 10.1097/MPG.0b013e3181788618.
12. [Expression of epidermal growth factor receptor and concentrations of epidermal growth factor and melatonin in endometrial carcinoma]. Dznelashvili N, etal., Georgian Med News. 2014 Oct;(235):17-24.
13. Common genetic variability in ESR1 and EGF in relation to endometrial cancer risk and survival. Einarsdóttir K, etal., Br J Cancer. 2009 Apr 21;100(8):1358-64. doi: 10.1038/sj.bjc.6604984. Epub 2009 Mar 24.
14. Abnormal expression of epidermal growth factor and its receptor in the forebrain and serum of schizophrenic patients. Futamura T, etal., Mol Psychiatry. 2002;7(7):673-82.
15. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
16. Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. Groenestege WM, etal., J Clin Invest. 2007 Aug;117(8):2260-7.
17. Control of the epidermal growth factor receptor and its ligands during renal injury. Hise MK, etal., Nephron. 2001 May;88(1):71-9.
18. Matrix metalloproteinase-2 and epidermal growth factor are decreased in platelets of Alzheimer patients. Hochstrasser T, etal., Curr Alzheimer Res. 2012 Oct;9(8):982-9.
19. The impact of Helicobacter pylori on EGF, EGF receptor, and the c-erb-B2 expression. Jurkowska G, etal., Adv Med Sci. 2014 Sep;59(2):221-6. doi: 10.1016/j.advms.2014.01.006. Epub 2014 Jun 9.
20. Changes in hepatic cell junctions structure during experimental necrotizing enterocolitis: effect of EGF treatment. Khailova L, etal., Pediatr Res. 2009 Aug;66(2):140-4.
21. A functional polymorphism in the epidermal growth factor gene is associated with risk for glioma in a Chinese population. Li Y, etal., Genet Test Mol Biomarkers. 2012 May;16(5):449-52. doi: 10.1089/gtmb.2011.0258. Epub 2011 Nov 22.
22. Exploration of disease mechanism in acute kidney injury using a multiplex bead array assay: a nested case-control pilot study. Liangos O, etal., Biomarkers. 2010 Aug;15(5):436-45.
23. Interstitial vascular rarefaction and reduced VEGF-A expression in human diabetic nephropathy. Lindenmeyer MT, etal., J Am Soc Nephrol. 2007 Jun;18(6):1765-76. Epub 2007 May 2.
24. Clinical Implication of EGF A61G Polymorphism in the Risk of Non Small Cell Lung Adenocarcinoma Patients: A Case Control Study. Masroor M, etal., Asian Pac J Cancer Prev. 2015;16(17):7529-34.
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26. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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28. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
29. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
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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. A Phase III Clinical Trial of the Epidermal Growth Factor Vaccine CIMAvax-EGF as Switch Maintenance Therapy in Advanced Non-Small Cell Lung Cancer Patients. Rodriguez PC, etal., Clin Cancer Res. 2016 Aug 1;22(15):3782-90. doi: 10.1158/1078-0432.CCR-15-0855. Epub 2016 Feb 29.
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42. Genetic susceptibility of epidermal growth factor +61A>G and transforming growth factor beta1 -509C>T gene polymorphisms with gallbladder cancer. Vishnoi M, etal., Hum Immunol. 2008 Jun;69(6):360-7. Epub 2008 May 6.
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44. Association of epidermal growth factor and epidermal growth factor receptor polymorphisms with the risk of hepatitis B virus-related hepatocellular carcinoma in the population of North China. Wu J, etal., Genet Test Mol Biomarkers. 2013 Aug;17(8):595-600. doi: 10.1089/gtmb.2013.0031. Epub 2013 Jun 22.
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Additional References at PubMed
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Genomics

Comparative Map Data
EGF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384109,912,883 - 110,013,766 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4109,912,883 - 110,013,766 (+)EnsemblGRCh38hg38GRCh38
GRCh374110,834,039 - 110,934,922 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364111,053,499 - 111,152,868 (+)NCBINCBI36Build 36hg18NCBI36
Build 344111,191,653 - 111,291,023NCBI
Celera4108,127,771 - 108,227,842 (+)NCBICelera
Cytogenetic Map4q25NCBI
HuRef4106,566,131 - 106,666,223 (+)NCBIHuRef
CHM1_14110,810,552 - 110,910,629 (+)NCBICHM1_1
T2T-CHM13v2.04113,214,975 - 113,315,858 (+)NCBIT2T-CHM13v2.0
Egf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393129,471,223 - 129,548,971 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3129,471,214 - 129,548,965 (-)EnsemblGRCm39 Ensembl
GRCm383129,677,574 - 129,755,322 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3129,677,565 - 129,755,316 (-)EnsemblGRCm38mm10GRCm38
MGSCv373129,380,493 - 129,458,240 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363129,669,600 - 129,747,338 (-)NCBIMGSCv36mm8
Celera3136,187,440 - 136,268,006 (-)NCBICelera
Cytogenetic Map3G3NCBI
cM Map358.5NCBI
Egf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82220,893,660 - 220,976,331 (-)NCBIGRCr8
mRatBN7.22218,219,408 - 218,302,359 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2218,219,415 - 218,302,064 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2225,907,754 - 225,986,699 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02223,807,431 - 223,886,385 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02218,665,094 - 218,744,036 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0268,820,616 - 68,895,537 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0288,549,746 - 88,621,570 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0274,746,752 - 74,783,449 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02253,481,574 - 253,482,579 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42227,103,900 - 227,195,062 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12227,090,579 - 227,181,742 (-)NCBI
Celera2210,511,076 - 210,588,041 (-)NCBICelera
RH 3.4 Map21556.7RGD
Cytogenetic Map2q43NCBI
Egf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955496328,075 - 401,569 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955496325,954 - 401,430 (-)NCBIChiLan1.0ChiLan1.0
EGF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23108,005,905 - 108,105,686 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14108,299,162 - 108,398,948 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04102,410,724 - 102,509,691 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14112,977,565 - 113,075,761 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4112,977,565 - 113,076,460 (+)Ensemblpanpan1.1panPan2
EGF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13230,073,541 - 30,166,904 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3230,073,950 - 30,166,295 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3211,863,120 - 11,956,432 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03230,294,579 - 30,388,079 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3230,294,820 - 30,388,248 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13230,288,558 - 30,381,524 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03230,031,820 - 30,125,429 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0329,723,676 - 9,817,337 (-)NCBIUU_Cfam_GSD_1.0
Egf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530110,767,839 - 10,855,510 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365631,058,803 - 1,181,393 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EGF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8112,234,386 - 112,330,046 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18112,235,607 - 112,330,062 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28120,384,625 - 120,413,090 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap8q2.3-q2.7NCBI
EGF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1757,810,110 - 57,911,361 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl757,811,728 - 57,911,516 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603736,484,638 - 36,584,482 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in EGF
466 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001963.6(EGF):c.3209C>T (p.Pro1070Leu) single nucleotide variant Renal hypomagnesemia 4 [RCV000018089] Chr4:110004540 [GRCh38]
Chr4:110925696 [GRCh37]
Chr4:4q25		 pathogenic
NM_001963.6(EGF):c.3454_3468del (p.Ser1152_Ser1156del) deletion not provided [RCV000722513] Chr4:110011282..110011296 [GRCh38]
Chr4:110932438..110932452 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh38/hg38 4q25(chr4:109800241-109990141)x3 copy number gain See cases [RCV000051633] Chr4:109800241..109990141 [GRCh38]
Chr4:110721397..110911297 [GRCh37]
Chr4:110940846..111130746 [NCBI36]
Chr4:4q25		 uncertain significance
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3 copy number gain See cases [RCV000051777] Chr4:105778347..110206873 [GRCh38]
Chr4:106699504..111128029 [GRCh37]
Chr4:106918953..111347478 [NCBI36]
Chr4:4q24-25		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
NM_001963.4(EGF):c.478C>T (p.Pro160Ser) single nucleotide variant Malignant melanoma [RCV000060893] Chr4:109943404 [GRCh38]
Chr4:110864560 [GRCh37]
Chr4:111084009 [NCBI36]
Chr4:4q25		 not provided
NM_001963.6(EGF):c.-382A>G single nucleotide variant Cholangiocarcinoma [RCV003311714]|Renal hypomagnesemia 4 [RCV000340803]|not provided [RCV001723790] Chr4:109912954 [GRCh38]
Chr4:110834110 [GRCh37]
Chr4:4q25		 benign|drug response|other
NM_001963.6(EGF):c.3127C>T (p.Leu1043Phe) single nucleotide variant not provided [RCV000514813] Chr4:109999800 [GRCh38]
Chr4:110920956 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.2124G>A (p.Met708Ile) single nucleotide variant Renal hypomagnesemia 4 [RCV000261366]|not provided [RCV001691992]|not specified [RCV001529738] Chr4:109980042 [GRCh38]
Chr4:110901198 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2525T>C (p.Met842Thr) single nucleotide variant Renal hypomagnesemia 4 [RCV000262651]|not provided [RCV001660728] Chr4:109987777 [GRCh38]
Chr4:110908933 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.1066+10G>C single nucleotide variant Renal hypomagnesemia 4 [RCV000278406]|not provided [RCV000889194] Chr4:109959447 [GRCh38]
Chr4:110880603 [GRCh37]
Chr4:4q25		 benign|uncertain significance
NM_001963.6(EGF):c.*926del deletion Renal Hypomagnesemia, Recessive [RCV000278494] Chr4:110012368 [GRCh38]
Chr4:110933524 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.*1001C>G single nucleotide variant Renal hypomagnesemia 4 [RCV000284197] Chr4:110012456 [GRCh38]
Chr4:110933612 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1292G>A (p.Arg431Lys) single nucleotide variant Renal hypomagnesemia 4 [RCV000284265]|not provided [RCV001718740] Chr4:109961965 [GRCh38]
Chr4:110883121 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.-447G>A single nucleotide variant Renal hypomagnesemia 4 [RCV000281161] Chr4:109912889 [GRCh38]
Chr4:110834045 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.*157G>A single nucleotide variant Renal hypomagnesemia 4 [RCV000265869] Chr4:110011612 [GRCh38]
Chr4:110932768 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*446C>T single nucleotide variant Renal hypomagnesemia 4 [RCV000271443] Chr4:110011901 [GRCh38]
Chr4:110933057 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.47G>C (p.Ser16Thr) single nucleotide variant Hereditary renal cell carcinoma [RCV000678686]|Renal hypomagnesemia 4 [RCV000271515] Chr4:109913382 [GRCh38]
Chr4:110834538 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*361T>C single nucleotide variant Renal hypomagnesemia 4 [RCV000270146] Chr4:110011816 [GRCh38]
Chr4:110932972 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.556G>C (p.Asp186His) single nucleotide variant Renal hypomagnesemia 4 [RCV000277402]|not provided [RCV000975047] Chr4:109943888 [GRCh38]
Chr4:110865044 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.3521C>A (p.Thr1174Asn) single nucleotide variant EGF-related condition [RCV003970000]|Renal hypomagnesemia 4 [RCV000314028]|not provided [RCV000975048] Chr4:110011352 [GRCh38]
Chr4:110932508 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.769G>C (p.Asp257His) single nucleotide variant Renal hypomagnesemia 4 [RCV000332424]|not provided [RCV000964969] Chr4:109945104 [GRCh38]
Chr4:110866260 [GRCh37]
Chr4:4q25		 benign|uncertain significance
NM_001963.6(EGF):c.*67A>G single nucleotide variant Renal hypomagnesemia 4 [RCV000301214] Chr4:110011522 [GRCh38]
Chr4:110932678 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2088T>C (p.Tyr696=) single nucleotide variant Renal hypomagnesemia 4 [RCV000315347]|not provided [RCV002520197] Chr4:109980006 [GRCh38]
Chr4:110901162 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.3530G>C (p.Gly1177Ala) single nucleotide variant Renal hypomagnesemia 4 [RCV000336238]|not provided [RCV000885184] Chr4:110011361 [GRCh38]
Chr4:110932517 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.1491T>C (p.His497=) single nucleotide variant Renal hypomagnesemia 4 [RCV000379075]|not provided [RCV000943302] Chr4:109964453 [GRCh38]
Chr4:110885609 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.2433G>A (p.Val811=) single nucleotide variant Renal hypomagnesemia 4 [RCV000357482]|not provided [RCV000893462] Chr4:109983483 [GRCh38]
Chr4:110904639 [GRCh37]
Chr4:4q25		 benign|likely benign|uncertain significance
NM_001963.6(EGF):c.*1266T>A single nucleotide variant Renal hypomagnesemia 4 [RCV000403080] Chr4:110012721 [GRCh38]
Chr4:110933877 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.*1222A>G single nucleotide variant Renal hypomagnesemia 4 [RCV000403419] Chr4:110012677 [GRCh38]
Chr4:110933833 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.1575+6G>A single nucleotide variant Renal hypomagnesemia 4 [RCV000289393] Chr4:109964543 [GRCh38]
Chr4:110885699 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1095T>C (p.His365=) single nucleotide variant Renal hypomagnesemia 4 [RCV000319495]|not provided [RCV001675849] Chr4:109960895 [GRCh38]
Chr4:110882051 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.*1118A>C single nucleotide variant Renal hypomagnesemia 4 [RCV000339346] Chr4:110012573 [GRCh38]
Chr4:110933729 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.2073A>G (p.Ala691=) single nucleotide variant Renal hypomagnesemia 4 [RCV000404117]|not provided [RCV001613145] Chr4:109979991 [GRCh38]
Chr4:110901147 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.*1244T>C single nucleotide variant Renal hypomagnesemia 4 [RCV000304637] Chr4:110012699 [GRCh38]
Chr4:110933855 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.-140A>G single nucleotide variant Renal hypomagnesemia 4 [RCV000360088] Chr4:109913196 [GRCh38]
Chr4:110834352 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*201A>C single nucleotide variant Renal hypomagnesemia 4 [RCV000360186] Chr4:110011656 [GRCh38]
Chr4:110932812 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2858-11G>T single nucleotide variant Renal hypomagnesemia 4 [RCV000382911] Chr4:109994722 [GRCh38]
Chr4:110915878 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*18A>G single nucleotide variant Renal hypomagnesemia 4 [RCV000405165] Chr4:110011473 [GRCh38]
Chr4:110932629 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1725-12C>A single nucleotide variant Renal hypomagnesemia 4 [RCV000406095]|not provided [RCV001643053] Chr4:109974691 [GRCh38]
Chr4:110895847 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3073G>T (p.Ala1025Ser) single nucleotide variant Renal hypomagnesemia 4 [RCV000288503]|not provided [RCV001861223] Chr4:109999746 [GRCh38]
Chr4:110920902 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3162C>G (p.Ala1054=) single nucleotide variant Renal hypomagnesemia 4 [RCV000383978]|not provided [RCV002057903] Chr4:109999835 [GRCh38]
Chr4:110920991 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.*929G>A single nucleotide variant Renal hypomagnesemia 4 [RCV000406954] Chr4:110012384 [GRCh38]
Chr4:110933540 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.-102G>A single nucleotide variant Renal hypomagnesemia 4 [RCV000306711] Chr4:109913234 [GRCh38]
Chr4:110834390 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.*483C>T single nucleotide variant Renal hypomagnesemia 4 [RCV000385798] Chr4:110011938 [GRCh38]
Chr4:110933094 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.2759A>T (p.Glu920Val) single nucleotide variant Renal hypomagnesemia 4 [RCV000323639]|not provided [RCV001636968] Chr4:109993271 [GRCh38]
Chr4:110914427 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1313-10G>T single nucleotide variant Renal hypomagnesemia 4 [RCV000343173]|not provided [RCV000953211] Chr4:109963163 [GRCh38]
Chr4:110884319 [GRCh37]
Chr4:4q25		 benign|likely benign|uncertain significance
NM_001963.6(EGF):c.*1265T>A single nucleotide variant Renal hypomagnesemia 4 [RCV000364017] Chr4:110012720 [GRCh38]
Chr4:110933876 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*393T>C single nucleotide variant Renal hypomagnesemia 4 [RCV000325327] Chr4:110011848 [GRCh38]
Chr4:110933004 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.1723G>A (p.Gly575Arg) single nucleotide variant EGF-related condition [RCV003912469]|Renal hypomagnesemia 4 [RCV000344420]|not provided [RCV000958084] Chr4:109969118 [GRCh38]
Chr4:110890274 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.*1356T>C single nucleotide variant Renal hypomagnesemia 4 [RCV000365277] Chr4:110012811 [GRCh38]
Chr4:110933967 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.46A>C (p.Ser16Arg) single nucleotide variant Renal hypomagnesemia 4 [RCV000366057]|not provided [RCV000899771] Chr4:109913381 [GRCh38]
Chr4:110834537 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.1818T>C (p.His606=) single nucleotide variant Renal hypomagnesemia 4 [RCV000309371] Chr4:109974796 [GRCh38]
Chr4:110895952 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.451C>T (p.His151Tyr) single nucleotide variant Renal hypomagnesemia 4 [RCV000366764]|not provided [RCV000975046] Chr4:109943377 [GRCh38]
Chr4:110864533 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.*561G>C single nucleotide variant Renal hypomagnesemia 4 [RCV000295677] Chr4:110012016 [GRCh38]
Chr4:110933172 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*1283C>T single nucleotide variant Renal hypomagnesemia 4 [RCV000310322] Chr4:110012738 [GRCh38]
Chr4:110933894 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.3110C>T (p.Ala1037Val) single nucleotide variant Renal hypomagnesemia 4 [RCV000348034]|not provided [RCV003736738] Chr4:109999783 [GRCh38]
Chr4:110920939 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3371-4A>G single nucleotide variant EGF-related condition [RCV003957799]|Renal hypomagnesemia 4 [RCV000349186]|not provided [RCV002057904] Chr4:110011198 [GRCh38]
Chr4:110932354 [GRCh37]
Chr4:4q25		 benign|likely benign|uncertain significance
NM_001963.6(EGF):c.2115A>G (p.Pro705=) single nucleotide variant Renal hypomagnesemia 4 [RCV000370093] Chr4:109980033 [GRCh38]
Chr4:110901189 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3406dup (p.Gln1136fs) duplication EGF-related condition [RCV003972469]|Renal Hypomagnesemia, Recessive [RCV000393640]|not provided [RCV001683382] Chr4:110011233..110011234 [GRCh38]
Chr4:110932389..110932390 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1977C>T (p.Cys659=) single nucleotide variant Renal hypomagnesemia 4 [RCV000350212]|not provided [RCV001672635] Chr4:109976159 [GRCh38]
Chr4:110897315 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.2351A>T (p.Asp784Val) single nucleotide variant Renal hypomagnesemia 4 [RCV000297814]|not provided [RCV001723947] Chr4:109980955 [GRCh38]
Chr4:110902111 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.264C>T (p.Ile88=) single nucleotide variant EGF-related condition [RCV003912468]|Renal hypomagnesemia 4 [RCV000331317]|not provided [RCV000961561] Chr4:109941082 [GRCh38]
Chr4:110862238 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.*479T>C single nucleotide variant Renal hypomagnesemia 4 [RCV000331232] Chr4:110011934 [GRCh38]
Chr4:110933090 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.940+11G>A single nucleotide variant Renal hypomagnesemia 4 [RCV000373028]|not provided [RCV001636967]|not specified [RCV001529417] Chr4:109945286 [GRCh38]
Chr4:110866442 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2755G>A (p.Gly919Arg) single nucleotide variant Renal hypomagnesemia 4 [RCV000268646] Chr4:109993267 [GRCh38]
Chr4:110914423 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3116_3117delinsAA (p.Cys1039Ter) indel not provided [RCV000489827] Chr4:109999789..109999790 [GRCh38]
Chr4:110920945..110920946 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*184A>C single nucleotide variant Renal hypomagnesemia 4 [RCV000302344] Chr4:110011639 [GRCh38]
Chr4:110932795 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*835G>A single nucleotide variant Renal hypomagnesemia 4 [RCV000332482] Chr4:110012290 [GRCh38]
Chr4:110933446 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.-283G>C single nucleotide variant Renal hypomagnesemia 4 [RCV000402672] Chr4:109913053 [GRCh38]
Chr4:110834209 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.-265G>T single nucleotide variant Renal hypomagnesemia 4 [RCV000305488] Chr4:109913071 [GRCh38]
Chr4:110834227 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*411A>G single nucleotide variant Renal hypomagnesemia 4 [RCV000365959] Chr4:110011866 [GRCh38]
Chr4:110933022 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3346G>T (p.Gly1116Cys) single nucleotide variant Renal hypomagnesemia 4 [RCV000294277] Chr4:110008206 [GRCh38]
Chr4:110929362 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.-127A>C single nucleotide variant Renal hypomagnesemia 4 [RCV000404761] Chr4:109913209 [GRCh38]
Chr4:110834365 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2608+14G>A single nucleotide variant Renal hypomagnesemia 4 [RCV000322513] Chr4:109987874 [GRCh38]
Chr4:110909030 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*925_*926del deletion Renal Hypomagnesemia, Recessive [RCV000338245] Chr4:110012368..110012369 [GRCh38]
Chr4:110933524..110933525 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*926dup duplication Renal Hypomagnesemia, Recessive [RCV000373086] Chr4:110012367..110012368 [GRCh38]
Chr4:110933523..110933524 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*107C>T single nucleotide variant Renal hypomagnesemia 4 [RCV000355968] Chr4:110011562 [GRCh38]
Chr4:110932718 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1140C>T (p.Cys380=) single nucleotide variant Renal Hypomagnesemia, Recessive [RCV000374040] Chr4:109960940 [GRCh38]
Chr4:110882096 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2742T>C (p.Asp914=) single nucleotide variant Renal hypomagnesemia 4 [RCV000377163] Chr4:109993254 [GRCh38]
Chr4:110914410 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1336G>A (p.Gly446Arg) single nucleotide variant Renal hypomagnesemia 4 [RCV002477677]|not provided [RCV000723245] Chr4:109963196 [GRCh38]
Chr4:110884352 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_001963.6(EGF):c.1360C>G (p.Leu454Val) single nucleotide variant Inborn genetic diseases [RCV003270961] Chr4:109963220 [GRCh38]
Chr4:110884376 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q25(chr4:110834150-110845707)x1 copy number loss not provided [RCV000743910] Chr4:110834150..110845707 [GRCh37]
Chr4:4q25		 benign
GRCh37/hg19 4q25(chr4:110840748-110862637)x1 copy number loss not provided [RCV000743911] Chr4:110840748..110862637 [GRCh37]
Chr4:4q25		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001963.6(EGF):c.1049_1066+30dup duplication not provided [RCV000895759] Chr4:109959418..109959419 [GRCh38]
Chr4:110880574..110880575 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.3292-7T>C single nucleotide variant Renal hypomagnesemia 4 [RCV001145106]|not provided [RCV000963301] Chr4:110008145 [GRCh38]
Chr4:110929301 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.1312+203C>T single nucleotide variant not provided [RCV001612565] Chr4:109962188 [GRCh38]
Chr4:110883344 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.941-104T>C single nucleotide variant not provided [RCV001667677] Chr4:109959208 [GRCh38]
Chr4:110880364 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.940+151A>T single nucleotide variant not provided [RCV001611784] Chr4:109945426 [GRCh38]
Chr4:110866582 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2491+276C>T single nucleotide variant not provided [RCV001681568] Chr4:109983817 [GRCh38]
Chr4:110904973 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1298G>A (p.Gly433Glu) single nucleotide variant not provided [RCV000978435] Chr4:109961971 [GRCh38]
Chr4:110883127 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1789A>G (p.Ile597Val) single nucleotide variant Renal hypomagnesemia 4 [RCV001151105]|not provided [RCV000962094] Chr4:109974767 [GRCh38]
Chr4:110895923 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.-424G>A single nucleotide variant Renal hypomagnesemia 4 [RCV001146750] Chr4:109912912 [GRCh38]
Chr4:110834068 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2337G>A (p.Thr779=) single nucleotide variant EGF-related condition [RCV003906263]|Renal hypomagnesemia 4 [RCV001146953]|not provided [RCV002070784] Chr4:109980941 [GRCh38]
Chr4:110902097 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.-342C>G single nucleotide variant Renal hypomagnesemia 4 [RCV001147646] Chr4:109912994 [GRCh38]
Chr4:110834150 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1313-33C>T single nucleotide variant not provided [RCV001690117] Chr4:109963140 [GRCh38]
Chr4:110884296 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2298G>A (p.Ser766=) single nucleotide variant Renal hypomagnesemia 4 [RCV001146952]|not provided [RCV000883738] Chr4:109980902 [GRCh38]
Chr4:110902058 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.941-9C>A single nucleotide variant Renal hypomagnesemia 4 [RCV002478997]|not provided [RCV000880105] Chr4:109959303 [GRCh38]
Chr4:110880459 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.3072C>T (p.His1024=) single nucleotide variant not provided [RCV000914730] Chr4:109999745 [GRCh38]
Chr4:110920901 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3251C>G (p.Ala1084Gly) single nucleotide variant Renal hypomagnesemia 4 [RCV001145104]|not provided [RCV000969482] Chr4:110004582 [GRCh38]
Chr4:110925738 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.875T>A (p.Leu292His) single nucleotide variant Renal hypomagnesemia 4 [RCV001146857]|not provided [RCV000881198] Chr4:109945210 [GRCh38]
Chr4:110866366 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.1380A>G (p.Glu460=) single nucleotide variant Renal hypomagnesemia 4 [RCV001147762]|not provided [RCV000948282] Chr4:109963240 [GRCh38]
Chr4:110884396 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.3138G>A (p.Leu1046=) single nucleotide variant not provided [RCV000904876] Chr4:109999811 [GRCh38]
Chr4:110920967 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2609-5C>A single nucleotide variant Renal hypomagnesemia 4 [RCV001147856]|not provided [RCV000966927] Chr4:109988579 [GRCh38]
Chr4:110909735 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1353C>T (p.Cys451=) single nucleotide variant not provided [RCV000973636] Chr4:109963213 [GRCh38]
Chr4:110884369 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.791G>A (p.Trp264Ter) single nucleotide variant Renal hypomagnesemia 4 [RCV000779421] Chr4:109945126 [GRCh38]
Chr4:110866282 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1180C>T (p.Arg394Ter) single nucleotide variant Renal hypomagnesemia 4 [RCV000779422]|not specified [RCV003396353] Chr4:109960980 [GRCh38]
Chr4:110882136 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1980T>C (p.Asp660=) single nucleotide variant not provided [RCV000926672] Chr4:109976162 [GRCh38]
Chr4:110897318 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1914C>G (p.Ser638Arg) single nucleotide variant Renal hypomagnesemia 4 [RCV001144998]|not provided [RCV000885183] Chr4:109976096 [GRCh38]
Chr4:110897252 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.192C>A (p.Thr64=) single nucleotide variant Renal hypomagnesemia 4 [RCV002501385]|not provided [RCV000881243] Chr4:109941010 [GRCh38]
Chr4:110862166 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2760G>A (p.Glu920=) single nucleotide variant Renal hypomagnesemia 4 [RCV001149397]|not provided [RCV000940571] Chr4:109993272 [GRCh38]
Chr4:110914428 [GRCh37]
Chr4:4q25		 benign|uncertain significance
NM_001963.6(EGF):c.3429G>A (p.Glu1143=) single nucleotide variant not provided [RCV000941036] Chr4:110011260 [GRCh38]
Chr4:110932416 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3099C>T (p.Val1033=) single nucleotide variant EGF-related condition [RCV003958393]|Renal hypomagnesemia 4 [RCV002495524]|not provided [RCV000917072] Chr4:109999772 [GRCh38]
Chr4:110920928 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1602G>A (p.Lys534=) single nucleotide variant EGF-related condition [RCV003978334]|Renal hypomagnesemia 4 [RCV001151103]|not provided [RCV000958935] Chr4:109968997 [GRCh38]
Chr4:110890153 [GRCh37]
Chr4:4q25		 benign|likely benign|uncertain significance
NM_001963.6(EGF):c.2362C>T (p.Leu788=) single nucleotide variant Renal hypomagnesemia 4 [RCV001147855]|not provided [RCV000916028] Chr4:109980966 [GRCh38]
Chr4:110902122 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.3006-11T>G single nucleotide variant Renal hypomagnesemia 4 [RCV001149399]|not provided [RCV002070812] Chr4:109999668 [GRCh38]
Chr4:110920824 [GRCh37]
Chr4:4q25		 benign|uncertain significance
NM_001963.6(EGF):c.-78A>G single nucleotide variant Renal hypomagnesemia 4 [RCV001150997] Chr4:109913258 [GRCh38]
Chr4:110834414 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.835G>A (p.Asp279Asn) single nucleotide variant Renal hypomagnesemia 4 [RCV001146856] Chr4:109945170 [GRCh38]
Chr4:110866326 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2940C>T (p.His980=) single nucleotide variant Renal hypomagnesemia 4 [RCV001149398]|not provided [RCV000940247] Chr4:109994815 [GRCh38]
Chr4:110915971 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.*937G>T single nucleotide variant Renal hypomagnesemia 4 [RCV001149491] Chr4:110012392 [GRCh38]
Chr4:110933548 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*1005A>G single nucleotide variant Renal hypomagnesemia 4 [RCV001149492] Chr4:110012460 [GRCh38]
Chr4:110933616 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*1068G>A single nucleotide variant Renal hypomagnesemia 4 [RCV001149493] Chr4:110012523 [GRCh38]
Chr4:110933679 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2297C>T (p.Ser766Leu) single nucleotide variant Renal hypomagnesemia 4 [RCV001146951]|not provided [RCV002070783] Chr4:109980901 [GRCh38]
Chr4:110902057 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.-60C>T single nucleotide variant Renal hypomagnesemia 4 [RCV001150998] Chr4:109913276 [GRCh38]
Chr4:110834432 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.-361C>G single nucleotide variant Renal hypomagnesemia 4 [RCV001147645] Chr4:109912975 [GRCh38]
Chr4:110834131 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.127+14T>A single nucleotide variant Renal hypomagnesemia 4 [RCV001144895] Chr4:109913476 [GRCh38]
Chr4:110834632 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.662G>C (p.Arg221Thr) single nucleotide variant Renal hypomagnesemia 4 [RCV001144896]|not provided [RCV002032367] Chr4:109943994 [GRCh38]
Chr4:110865150 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.731C>A (p.Pro244Gln) single nucleotide variant Renal hypomagnesemia 4 [RCV001144897] Chr4:109944063 [GRCh38]
Chr4:110865219 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3286C>T (p.Pro1096Ser) single nucleotide variant Renal hypomagnesemia 4 [RCV001145105] Chr4:110004617 [GRCh38]
Chr4:110925773 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.927C>A (p.Asp309Glu) single nucleotide variant Inborn genetic diseases [RCV003250947] Chr4:109945262 [GRCh38]
Chr4:110866418 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*1220G>A single nucleotide variant Renal hypomagnesemia 4 [RCV001149494] Chr4:110012675 [GRCh38]
Chr4:110933831 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.-273T>C single nucleotide variant Renal hypomagnesemia 4 [RCV001147647] Chr4:109913063 [GRCh38]
Chr4:110834219 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.-270T>G single nucleotide variant Renal hypomagnesemia 4 [RCV001147648] Chr4:109913066 [GRCh38]
Chr4:110834222 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1404C>T (p.Asp468=) single nucleotide variant EGF-related condition [RCV003918731]|Renal hypomagnesemia 4 [RCV001147763]|not provided [RCV002070794] Chr4:109963264 [GRCh38]
Chr4:110884420 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.1416T>A (p.Asp472Glu) single nucleotide variant Inborn genetic diseases [RCV002557163]|Renal hypomagnesemia 4 [RCV001147764]|not provided [RCV001882453] Chr4:109963276 [GRCh38]
Chr4:110884432 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.-228G>C single nucleotide variant Renal hypomagnesemia 4 [RCV001150996] Chr4:109913108 [GRCh38]
Chr4:110834264 [GRCh37]
Chr4:4q25		 uncertain significance
NC_000004.11:g.(?_110834110)_(110932611_?)dup duplication not provided [RCV003107567] Chr4:110834110..110932611 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2492-19G>A single nucleotide variant not provided [RCV001653224] Chr4:109987725 [GRCh38]
Chr4:110908881 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1189+315G>A single nucleotide variant not provided [RCV001655070] Chr4:109961304 [GRCh38]
Chr4:110882460 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1189+331C>A single nucleotide variant not provided [RCV001597326] Chr4:109961320 [GRCh38]
Chr4:110882476 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2371+35G>A single nucleotide variant not provided [RCV001671127] Chr4:109981010 [GRCh38]
Chr4:110902166 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3005+144G>A single nucleotide variant not provided [RCV001695790] Chr4:109995024 [GRCh38]
Chr4:110916180 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1439-315A>T single nucleotide variant not provided [RCV001666720] Chr4:109964086 [GRCh38]
Chr4:110885242 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1066+40C>T single nucleotide variant not provided [RCV001685091] Chr4:109959477 [GRCh38]
Chr4:110880633 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3174-290_3174-289del deletion not provided [RCV001618105] Chr4:110004214..110004215 [GRCh38]
Chr4:110925370..110925371 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2608+350dup duplication not provided [RCV001651629] Chr4:109988192..109988193 [GRCh38]
Chr4:110909348..110909349 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.737+153G>T single nucleotide variant not provided [RCV001717971] Chr4:109944222 [GRCh38]
Chr4:110865378 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.738-51A>C single nucleotide variant not provided [RCV001652845] Chr4:109945022 [GRCh38]
Chr4:110866178 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.940+77C>T single nucleotide variant not provided [RCV001656836] Chr4:109945352 [GRCh38]
Chr4:110866508 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.940+286G>A single nucleotide variant not provided [RCV001620836] Chr4:109945561 [GRCh38]
Chr4:110866717 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.737+46T>G single nucleotide variant not provided [RCV001678607] Chr4:109944115 [GRCh38]
Chr4:110865271 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.978C>T (p.Ser326=) single nucleotide variant Renal hypomagnesemia 4 [RCV002489236]|not provided [RCV000929628] Chr4:109959349 [GRCh38]
Chr4:110880505 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.891A>C (p.Val297=) single nucleotide variant Renal hypomagnesemia 4 [RCV002505382]|not provided [RCV000930295] Chr4:109945226 [GRCh38]
Chr4:110866382 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3189A>G (p.Leu1063=) single nucleotide variant EGF-related condition [RCV003913150]|Renal hypomagnesemia 4 [RCV002502842]|not provided [RCV000930984] Chr4:110004520 [GRCh38]
Chr4:110925676 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.1137C>T (p.Tyr379=) single nucleotide variant Renal hypomagnesemia 4 [RCV001147759]|not provided [RCV000905861] Chr4:109960937 [GRCh38]
Chr4:110882093 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.57T>C (p.Ser19=) single nucleotide variant Renal hypomagnesemia 4 [RCV001144894]|not provided [RCV000895472] Chr4:109913392 [GRCh38]
Chr4:110834548 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.3051G>A (p.Leu1017=) single nucleotide variant not provided [RCV000895562] Chr4:109999724 [GRCh38]
Chr4:110920880 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2919C>T (p.Asp973=) single nucleotide variant not provided [RCV000910829] Chr4:109994794 [GRCh38]
Chr4:110915950 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1066+12A>G single nucleotide variant Renal hypomagnesemia 4 [RCV001146858] Chr4:109959449 [GRCh38]
Chr4:110880605 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1097G>A (p.Gly366Asp) single nucleotide variant Renal hypomagnesemia 4 [RCV001146859]|not provided [RCV002070781] Chr4:109960897 [GRCh38]
Chr4:110882053 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.*42C>T single nucleotide variant Renal hypomagnesemia 4 [RCV001147057] Chr4:110011497 [GRCh38]
Chr4:110932653 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1190-10T>C single nucleotide variant Renal hypomagnesemia 4 [RCV001147760]|not provided [RCV002559418] Chr4:109961853 [GRCh38]
Chr4:110883009 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.1258T>G (p.Leu420Val) single nucleotide variant Renal hypomagnesemia 4 [RCV001147761] Chr4:109961931 [GRCh38]
Chr4:110883087 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2682T>G (p.Gly894=) single nucleotide variant Renal hypomagnesemia 4 [RCV001147857] Chr4:109988657 [GRCh38]
Chr4:110909813 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2674G>A (p.Glu892Lys) single nucleotide variant not provided [RCV000913236] Chr4:109988649 [GRCh38]
Chr4:110909805 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.720T>C (p.Ile240=) single nucleotide variant Renal hypomagnesemia 4 [RCV002501466]|not provided [RCV000891478] Chr4:109944052 [GRCh38]
Chr4:110865208 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.1367C>A (p.Pro456Gln) single nucleotide variant not provided [RCV000890934] Chr4:109963227 [GRCh38]
Chr4:110884383 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3118G>A (p.Val1040Met) single nucleotide variant Renal hypomagnesemia 4 [RCV001145103]|not provided [RCV000889210] Chr4:109999791 [GRCh38]
Chr4:110920947 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_001963.6(EGF):c.3174-292_3174-291dup duplication not provided [RCV001656867] Chr4:110004211..110004212 [GRCh38]
Chr4:110925367..110925368 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2857+226A>G single nucleotide variant not provided [RCV001676158] Chr4:109993595 [GRCh38]
Chr4:110914751 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1067-82C>T single nucleotide variant not provided [RCV001635661] Chr4:109960785 [GRCh38]
Chr4:110881941 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2053+144G>A single nucleotide variant not provided [RCV001676318] Chr4:109976379 [GRCh38]
Chr4:110897535 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.737+141G>A single nucleotide variant not provided [RCV001620366] Chr4:109944210 [GRCh38]
Chr4:110865366 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3174-289AC[20] microsatellite not provided [RCV001671412] Chr4:110004215..110004216 [GRCh38]
Chr4:110925371..110925372 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3174-290_3174-281del deletion not provided [RCV001636203] Chr4:110004212..110004221 [GRCh38]
Chr4:110925368..110925377 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1576-297ATCT[11] microsatellite not provided [RCV001597574] Chr4:109968673..109968674 [GRCh38]
Chr4:110889829..110889830 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1829+87A>C single nucleotide variant not provided [RCV001597674] Chr4:109974894 [GRCh38]
Chr4:110896050 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2734+151G>A single nucleotide variant not provided [RCV001616028] Chr4:109988860 [GRCh38]
Chr4:110910016 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1313-175C>A single nucleotide variant not provided [RCV001616052] Chr4:109962998 [GRCh38]
Chr4:110884154 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2222-329T>C single nucleotide variant not provided [RCV001536851] Chr4:109980497 [GRCh38]
Chr4:110901653 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1830-281T>G single nucleotide variant not provided [RCV001678062] Chr4:109975731 [GRCh38]
Chr4:110896887 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.940+95A>T single nucleotide variant not provided [RCV001653228] Chr4:109945370 [GRCh38]
Chr4:110866526 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.327+62C>T single nucleotide variant not provided [RCV001677537] Chr4:109941207 [GRCh38]
Chr4:110862363 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3174-289AC[21] microsatellite not provided [RCV001685720] Chr4:110004215..110004216 [GRCh38]
Chr4:110925371..110925372 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2222-125A>G single nucleotide variant not provided [RCV001620291] Chr4:109980701 [GRCh38]
Chr4:110901857 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1190-39G>T single nucleotide variant not provided [RCV001621534] Chr4:109961824 [GRCh38]
Chr4:110882980 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.737+240A>G single nucleotide variant not provided [RCV001598196] Chr4:109944309 [GRCh38]
Chr4:110865465 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2608+32A>T single nucleotide variant not provided [RCV001621872] Chr4:109987892 [GRCh38]
Chr4:110909048 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.128-79G>A single nucleotide variant not provided [RCV001689046] Chr4:109940867 [GRCh38]
Chr4:110862023 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2372-76G>A single nucleotide variant not provided [RCV001598771] Chr4:109983346 [GRCh38]
Chr4:110904502 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.737+207A>G single nucleotide variant not provided [RCV001674521] Chr4:109944276 [GRCh38]
Chr4:110865432 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.940+22G>A single nucleotide variant not provided [RCV001620960] Chr4:109945297 [GRCh38]
Chr4:110866453 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3174-290T>C single nucleotide variant not provided [RCV001695275] Chr4:110004215 [GRCh38]
Chr4:110925371 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.737+321T>G single nucleotide variant not provided [RCV001657413] Chr4:109944390 [GRCh38]
Chr4:110865546 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3174-202G>A single nucleotide variant not provided [RCV001599136] Chr4:110004303 [GRCh38]
Chr4:110925459 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1576-29del deletion not provided [RCV001670015] Chr4:109968934 [GRCh38]
Chr4:110890090 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.737+243A>G single nucleotide variant not provided [RCV001710362] Chr4:109944312 [GRCh38]
Chr4:110865468 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2735-252_2735-251insGTT insertion not provided [RCV001720442] Chr4:109992994..109992995 [GRCh38]
Chr4:110914150..110914151 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2735-185C>G single nucleotide variant not provided [RCV001720444] Chr4:109993062 [GRCh38]
Chr4:110914218 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.742A>G (p.Asn248Asp) single nucleotide variant Renal hypomagnesemia 4 [RCV001144898] Chr4:109945077 [GRCh38]
Chr4:110866233 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1821A>G (p.Pro607=) single nucleotide variant EGF-related condition [RCV003945865]|Renal hypomagnesemia 4 [RCV001144996]|not provided [RCV002070750] Chr4:109974799 [GRCh38]
Chr4:110895955 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.*1305T>C single nucleotide variant Renal hypomagnesemia 4 [RCV001145205] Chr4:110012760 [GRCh38]
Chr4:110933916 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.*1435T>C single nucleotide variant Renal hypomagnesemia 4 [RCV001145206] Chr4:110012890 [GRCh38]
Chr4:110934046 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3174-289AC[19] microsatellite not provided [RCV001685982] Chr4:110004215..110004216 [GRCh38]
Chr4:110925371..110925372 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3292-180G>A single nucleotide variant not provided [RCV001665773] Chr4:110007972 [GRCh38]
Chr4:110929128 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.737+262C>T single nucleotide variant not provided [RCV001684258] Chr4:109944331 [GRCh38]
Chr4:110865487 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2492-311A>G single nucleotide variant not provided [RCV001645915] Chr4:109987433 [GRCh38]
Chr4:110908589 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3370+267G>A single nucleotide variant not provided [RCV001680008] Chr4:110008497 [GRCh38]
Chr4:110929653 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1575+50A>G single nucleotide variant not provided [RCV001615447] Chr4:109964587 [GRCh38]
Chr4:110885743 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.128-175G>A single nucleotide variant not provided [RCV001708693] Chr4:109940771 [GRCh38]
Chr4:110861927 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1576-297ATCT[8] microsatellite not provided [RCV001708735] Chr4:109968674..109968677 [GRCh38]
Chr4:110889830..110889833 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.737+260T>C single nucleotide variant not provided [RCV001666161] Chr4:109944329 [GRCh38]
Chr4:110865485 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3174-289AC[17] microsatellite not provided [RCV001641406] Chr4:110004216..110004217 [GRCh38]
Chr4:110925372..110925373 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1067-222G>A single nucleotide variant not provided [RCV001669478] Chr4:109960645 [GRCh38]
Chr4:110881801 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1576-218T>C single nucleotide variant not provided [RCV001709126] Chr4:109968753 [GRCh38]
Chr4:110889909 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2372-130C>T single nucleotide variant not provided [RCV001652582] Chr4:109983292 [GRCh38]
Chr4:110904448 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1313-277G>A single nucleotide variant not provided [RCV001713911] Chr4:109962896 [GRCh38]
Chr4:110884052 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1851A>G (p.Thr617=) single nucleotide variant EGF-related condition [RCV003945866]|Renal hypomagnesemia 4 [RCV001144997]|not provided [RCV002557105] Chr4:109976033 [GRCh38]
Chr4:110897189 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.2082G>C (p.Glu694Asp) single nucleotide variant Renal hypomagnesemia 4 [RCV001144999] Chr4:109980000 [GRCh38]
Chr4:110901156 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2608+350del deletion not provided [RCV001649549] Chr4:109988193 [GRCh38]
Chr4:110909349 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3370+152G>A single nucleotide variant not provided [RCV001669783] Chr4:110008382 [GRCh38]
Chr4:110929538 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3371-12T>C single nucleotide variant Renal hypomagnesemia 4 [RCV001145107] Chr4:110011190 [GRCh38]
Chr4:110932346 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2608+153A>C single nucleotide variant not provided [RCV001679546] Chr4:109988013 [GRCh38]
Chr4:110909169 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3174-169C>A single nucleotide variant not provided [RCV001680642] Chr4:110004336 [GRCh38]
Chr4:110925492 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3174-192C>T single nucleotide variant not provided [RCV001696680] Chr4:110004313 [GRCh38]
Chr4:110925469 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1575+6G>T single nucleotide variant Renal hypomagnesemia 4 [RCV001151102]|not provided [RCV002557257] Chr4:109964543 [GRCh38]
Chr4:110885699 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.803C>A (p.Thr268Lys) single nucleotide variant Renal hypomagnesemia 4 [RCV001198149] Chr4:109945138 [GRCh38]
Chr4:110866294 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2223A>G (p.Gly741=) single nucleotide variant EGF-related condition [RCV003938509]|Renal hypomagnesemia 4 [RCV001146950]|not provided [RCV002070782] Chr4:109980827 [GRCh38]
Chr4:110901983 [GRCh37]
Chr4:4q25		 benign|likely benign|uncertain significance
NM_001963.6(EGF):c.1684G>C (p.Val562Leu) single nucleotide variant Inborn genetic diseases [RCV002557258]|Renal hypomagnesemia 4 [RCV001151104]|not provided [RCV001882466] Chr4:109969079 [GRCh38]
Chr4:110890235 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1801C>T (p.Arg601Ter) single nucleotide variant Hypomagnesemia 4, renal [RCV001292726] Chr4:109974779 [GRCh38]
Chr4:110895935 [GRCh37]
Chr4:4q25		 pathogenic
NM_001963.6(EGF):c.1576-297ATCT[12] microsatellite not provided [RCV001538835] Chr4:109968673..109968674 [GRCh38]
Chr4:110889829..110889830 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1189+1G>A single nucleotide variant Hypomagnesemia 4, renal [RCV001336411] Chr4:109960990 [GRCh38]
Chr4:110882146 [GRCh37]
Chr4:4q25		 pathogenic
NM_001963.6(EGF):c.*1990C>A single nucleotide variant not provided [RCV001356077] Chr4:110013445 [GRCh38]
Chr4:110934601 [GRCh37]
Chr4:4q25		 uncertain significance
NC_000004.12:g.110016321G>T single nucleotide variant not provided [RCV001356489] Chr4:110016321 [GRCh38]
Chr4:110937477 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3487C>T (p.Arg1163Ter) single nucleotide variant not provided [RCV002179752] Chr4:110011318 [GRCh38]
Chr4:110932474 [GRCh37]
Chr4:4q25		 pathogenic|likely benign
NM_001963.6(EGF):c.3586G>A (p.Ala1196Thr) single nucleotide variant not provided [RCV001356311] Chr4:110011417 [GRCh38]
Chr4:110932573 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1576-111C>T single nucleotide variant not provided [RCV001614920] Chr4:109968860 [GRCh38]
Chr4:110890016 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.509+132G>A single nucleotide variant not provided [RCV001686491] Chr4:109943567 [GRCh38]
Chr4:110864723 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1576-297ATCT[13] microsatellite not provided [RCV001673915] Chr4:109968673..109968674 [GRCh38]
Chr4:110889829..110889830 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2608+73C>T single nucleotide variant not provided [RCV001686894] Chr4:109987933 [GRCh38]
Chr4:110909089 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.510-140G>A single nucleotide variant not provided [RCV001716678] Chr4:109943702 [GRCh38]
Chr4:110864858 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2492-161C>T single nucleotide variant not provided [RCV001686372] Chr4:109987583 [GRCh38]
Chr4:110908739 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1438+291T>C single nucleotide variant not provided [RCV001710856] Chr4:109963589 [GRCh38]
Chr4:110884745 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3370+123C>G single nucleotide variant not provided [RCV001693778] Chr4:110008353 [GRCh38]
Chr4:110929509 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1575+175T>C single nucleotide variant not provided [RCV001670644] Chr4:109964712 [GRCh38]
Chr4:110885868 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1190-23T>C single nucleotide variant not provided [RCV001687074] Chr4:109961840 [GRCh38]
Chr4:110882996 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2372-88C>T single nucleotide variant not provided [RCV001687283] Chr4:109983334 [GRCh38]
Chr4:110904490 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1724+254T>A single nucleotide variant not provided [RCV001609800] Chr4:109969373 [GRCh38]
Chr4:110890529 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2608+348_2608+350dup duplication not provided [RCV001617048] Chr4:109988192..109988193 [GRCh38]
Chr4:110909348..110909349 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1576-38T>A single nucleotide variant not provided [RCV001614268] Chr4:109968933 [GRCh38]
Chr4:110890089 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3371-151dup duplication not provided [RCV001666261] Chr4:110011040..110011041 [GRCh38]
Chr4:110932196..110932197 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2584G>A (p.Ala862Thr) single nucleotide variant Inborn genetic diseases [RCV003377922]|not provided [RCV003108404] Chr4:109987836 [GRCh38]
Chr4:110908992 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3173+126C>G single nucleotide variant not provided [RCV001759276] Chr4:109999972 [GRCh38]
Chr4:110921128 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1576-297ATCT[10] microsatellite not provided [RCV001769629] Chr4:109968673..109968674 [GRCh38]
Chr4:110889829..110889830 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3174-290_3174-287del microsatellite not provided [RCV001769630] Chr4:110004209..110004212 [GRCh38]
Chr4:110925365..110925368 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.510-167G>A single nucleotide variant not provided [RCV001769639] Chr4:109943675 [GRCh38]
Chr4:110864831 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3005+199C>T single nucleotide variant not provided [RCV001768024] Chr4:109995079 [GRCh38]
Chr4:110916235 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.941-106T>C single nucleotide variant not provided [RCV001769638] Chr4:109959206 [GRCh38]
Chr4:110880362 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.127+107T>C single nucleotide variant not provided [RCV001769640] Chr4:109913569 [GRCh38]
Chr4:110834725 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2608+143del deletion not provided [RCV001774871] Chr4:109987993 [GRCh38]
Chr4:110909149 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1189+216dup duplication not provided [RCV001774929] Chr4:109961191..109961192 [GRCh38]
Chr4:110882347..110882348 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.128-186C>T single nucleotide variant not provided [RCV001769858] Chr4:109940760 [GRCh38]
Chr4:110861916 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1576-84T>C single nucleotide variant not provided [RCV001769528] Chr4:109968887 [GRCh38]
Chr4:110890043 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3174-307A>G single nucleotide variant not provided [RCV001769866] Chr4:110004198 [GRCh38]
Chr4:110925354 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.127+302A>G single nucleotide variant not provided [RCV001774906] Chr4:109913764 [GRCh38]
Chr4:110834920 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2857+103C>G single nucleotide variant not provided [RCV001759142] Chr4:109993472 [GRCh38]
Chr4:110914628 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2608+33C>A single nucleotide variant not provided [RCV001759194] Chr4:109987893 [GRCh38]
Chr4:110909049 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.127+29G>T single nucleotide variant not provided [RCV001776537] Chr4:109913491 [GRCh38]
Chr4:110834647 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1312+200T>G single nucleotide variant not provided [RCV001776553] Chr4:109962185 [GRCh38]
Chr4:110883341 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1313-92dup duplication not provided [RCV001764986] Chr4:109963064..109963065 [GRCh38]
Chr4:110884220..110884221 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2221+125G>T single nucleotide variant not provided [RCV001767999] Chr4:109980264 [GRCh38]
Chr4:110901420 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2221+279G>A single nucleotide variant not provided [RCV001768197] Chr4:109980418 [GRCh38]
Chr4:110901574 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.-342C>T single nucleotide variant not provided [RCV001769932] Chr4:109912994 [GRCh38]
Chr4:110834150 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2608+284del deletion not provided [RCV001769782] Chr4:109988142 [GRCh38]
Chr4:110909298 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2053+194G>A single nucleotide variant not provided [RCV001769872] Chr4:109976429 [GRCh38]
Chr4:110897585 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2054-310A>G single nucleotide variant not provided [RCV001774908] Chr4:109979662 [GRCh38]
Chr4:110900818 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3006-111G>A single nucleotide variant not provided [RCV001759346] Chr4:109999568 [GRCh38]
Chr4:110920724 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.737+91G>A single nucleotide variant not provided [RCV001768116] Chr4:109944160 [GRCh38]
Chr4:110865316 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3174-283_3174-282insGA insertion not provided [RCV001776530] Chr4:110004221..110004222 [GRCh38]
Chr4:110925377..110925378 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1576-192T>A single nucleotide variant not provided [RCV001752955] Chr4:109968779 [GRCh38]
Chr4:110889935 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1576-297ATCT[14] microsatellite not provided [RCV001753220] Chr4:109968673..109968674 [GRCh38]
Chr4:110889829..110889830 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2372-4A>G single nucleotide variant not provided [RCV001889106] Chr4:109983418 [GRCh38]
Chr4:110904574 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3481A>G (p.Met1161Val) single nucleotide variant not provided [RCV001964299] Chr4:110011312 [GRCh38]
Chr4:110932468 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.464G>A (p.Ser155Asn) single nucleotide variant Renal hypomagnesemia 4 [RCV002482556]|not provided [RCV001874309] Chr4:109943390 [GRCh38]
Chr4:110864546 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1919A>G (p.Asp640Gly) single nucleotide variant Renal hypomagnesemia 4 [RCV002479754]|not provided [RCV002009296] Chr4:109976101 [GRCh38]
Chr4:110897257 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1864C>T (p.Arg622Ter) single nucleotide variant Renal hypomagnesemia 4 [RCV002506895]|not provided [RCV001863827]|not specified [RCV003401780] Chr4:109976046 [GRCh38]
Chr4:110897202 [GRCh37]
Chr4:4q25		 uncertain significance
NC_000004.11:g.(?_110862082)_(110901315_?)del deletion not provided [RCV001928087] Chr4:110862082..110901315 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2693G>A (p.Arg898Gln) single nucleotide variant not provided [RCV001968861] Chr4:109988668 [GRCh38]
Chr4:110909824 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NM_001963.6(EGF):c.1742G>A (p.Arg581Lys) single nucleotide variant not provided [RCV001914299] Chr4:109974720 [GRCh38]
Chr4:110895876 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1052G>A (p.Arg351Gln) single nucleotide variant Renal hypomagnesemia 4 [RCV002503477]|not provided [RCV001895689] Chr4:109959423 [GRCh38]
Chr4:110880579 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1354G>A (p.Val452Ile) single nucleotide variant Renal hypomagnesemia 4 [RCV002484606]|not provided [RCV001948167] Chr4:109963214 [GRCh38]
Chr4:110884370 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21		 pathogenic
NM_001963.6(EGF):c.1791C>G (p.Ile597Met) single nucleotide variant Inborn genetic diseases [RCV003170460]|not provided [RCV001984249] Chr4:109974769 [GRCh38]
Chr4:110895925 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1480C>T (p.Arg494Ter) single nucleotide variant Renal hypomagnesemia 4 [RCV002503634]|not provided [RCV001927086] Chr4:109964442 [GRCh38]
Chr4:110885598 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3043C>T (p.Arg1015Ter) single nucleotide variant not provided [RCV001886629] Chr4:109999716 [GRCh38]
Chr4:110920872 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1898G>T (p.Arg633Leu) single nucleotide variant not provided [RCV001952711] Chr4:109976080 [GRCh38]
Chr4:110897236 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2378A>T (p.Glu793Val) single nucleotide variant Renal hypomagnesemia 4 [RCV002490258]|not provided [RCV001916352] Chr4:109983428 [GRCh38]
Chr4:110904584 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.134C>T (p.Ala45Val) single nucleotide variant not provided [RCV002031473] Chr4:109940952 [GRCh38]
Chr4:110862108 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.824A>G (p.His275Arg) single nucleotide variant not provided [RCV001879053] Chr4:109945159 [GRCh38]
Chr4:110866315 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.638G>A (p.Arg213Gln) single nucleotide variant Renal hypomagnesemia 4 [RCV002490217]|not provided [RCV001925318] Chr4:109943970 [GRCh38]
Chr4:110865126 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.830G>T (p.Gly277Val) single nucleotide variant not provided [RCV001905414] Chr4:109945165 [GRCh38]
Chr4:110866321 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.413G>A (p.Gly138Glu) single nucleotide variant not provided [RCV001897822] Chr4:109943339 [GRCh38]
Chr4:110864495 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1853G>A (p.Gly618Glu) single nucleotide variant not provided [RCV001960994] Chr4:109976035 [GRCh38]
Chr4:110897191 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.476A>G (p.Tyr159Cys) single nucleotide variant not provided [RCV001925941] Chr4:109943402 [GRCh38]
Chr4:110864558 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.686G>T (p.Cys229Phe) single nucleotide variant not provided [RCV001931206] Chr4:109944018 [GRCh38]
Chr4:110865174 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.887A>C (p.Lys296Thr) single nucleotide variant EGF-related condition [RCV003407840]|Renal hypomagnesemia 4 [RCV002482436]|not provided [RCV002051439] Chr4:109945222 [GRCh38]
Chr4:110866378 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2823T>A (p.Ala941=) single nucleotide variant not provided [RCV002148884] Chr4:109993335 [GRCh38]
Chr4:110914491 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2492-20G>A single nucleotide variant not provided [RCV002072684] Chr4:109987724 [GRCh38]
Chr4:110908880 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2491+20C>A single nucleotide variant Renal hypomagnesemia 4 [RCV002494017]|not provided [RCV002077687] Chr4:109983561 [GRCh38]
Chr4:110904717 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.737+11C>T single nucleotide variant Renal hypomagnesemia 4 [RCV002500211]|not provided [RCV002121367] Chr4:109944080 [GRCh38]
Chr4:110865236 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1190-14T>C single nucleotide variant not provided [RCV002156004] Chr4:109961849 [GRCh38]
Chr4:110883005 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.940+11_940+12inv inversion Renal hypomagnesemia 4 [RCV002481006]|not provided [RCV002158588] Chr4:109945286..109945287 [GRCh38]
Chr4:110866442..110866443 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2687T>C (p.Val896Ala) single nucleotide variant not provided [RCV003089149]|not specified [RCV002222920] Chr4:109988662 [GRCh38]
Chr4:110909818 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.940+16C>A single nucleotide variant not provided [RCV002220752] Chr4:109945291 [GRCh38]
Chr4:110866447 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1585G>T (p.Ala529Ser) single nucleotide variant not provided [RCV003110250] Chr4:109968980 [GRCh38]
Chr4:110890136 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2491+8T>A single nucleotide variant not provided [RCV003112467] Chr4:109983549 [GRCh38]
Chr4:110904705 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.99C>T (p.Leu33=) single nucleotide variant not provided [RCV003115436] Chr4:109913434 [GRCh38]
Chr4:110834590 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1966T>A (p.Leu656Met) single nucleotide variant not provided [RCV003118457] Chr4:109976148 [GRCh38]
Chr4:110897304 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1066+7_1066+30dup duplication not provided [RCV003121282] Chr4:109959422..109959423 [GRCh38]
Chr4:110880578..110880579 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2534G>A (p.Arg845Gln) single nucleotide variant not provided [RCV003121091] Chr4:109987786 [GRCh38]
Chr4:110908942 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2609-38T>A single nucleotide variant not provided [RCV002285659] Chr4:109988546 [GRCh38]
Chr4:110909702 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1636C>A (p.Arg546=) single nucleotide variant not provided [RCV003074121] Chr4:109969031 [GRCh38]
Chr4:110890187 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.456T>C (p.Ile152=) single nucleotide variant not provided [RCV002616164] Chr4:109943382 [GRCh38]
Chr4:110864538 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2084A>C (p.Asp695Ala) single nucleotide variant not provided [RCV003032868] Chr4:109980002 [GRCh38]
Chr4:110901158 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2613A>G (p.Ile871Met) single nucleotide variant not provided [RCV002726969] Chr4:109988588 [GRCh38]
Chr4:110909744 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1446A>G (p.Gln482=) single nucleotide variant EGF-related condition [RCV003926424]|not provided [RCV002613730] Chr4:109964408 [GRCh38]
Chr4:110885564 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2904C>T (p.Ser968=) single nucleotide variant not provided [RCV002771321] Chr4:109994779 [GRCh38]
Chr4:110915935 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1385A>T (p.Asp462Val) single nucleotide variant not provided [RCV002995819] Chr4:109963245 [GRCh38]
Chr4:110884401 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3371G>T (p.Gly1124Val) single nucleotide variant not provided [RCV002730184] Chr4:110011202 [GRCh38]
Chr4:110932358 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3006-17T>C single nucleotide variant not provided [RCV002776488] Chr4:109999662 [GRCh38]
Chr4:110920818 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.505G>A (p.Glu169Lys) single nucleotide variant Inborn genetic diseases [RCV002749323] Chr4:109943431 [GRCh38]
Chr4:110864587 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2492-4G>T single nucleotide variant not provided [RCV002617716] Chr4:109987740 [GRCh38]
Chr4:110908896 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1484A>G (p.His495Arg) single nucleotide variant Inborn genetic diseases [RCV002968086]|not provided [RCV002979067] Chr4:109964446 [GRCh38]
Chr4:110885602 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1369G>A (p.Val457Ile) single nucleotide variant not provided [RCV002971938] Chr4:109963229 [GRCh38]
Chr4:110884385 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.117T>A (p.Ser39=) single nucleotide variant not provided [RCV002616390] Chr4:109913452 [GRCh38]
Chr4:110834608 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2708A>G (p.Tyr903Cys) single nucleotide variant not provided [RCV003074669] Chr4:109988683 [GRCh38]
Chr4:110909839 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2315T>G (p.Met772Arg) single nucleotide variant not provided [RCV002618416] Chr4:109980919 [GRCh38]
Chr4:110902075 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3458A>G (p.Asp1153Gly) single nucleotide variant not provided [RCV003016771] Chr4:110011289 [GRCh38]
Chr4:110932445 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1903G>T (p.Val635Phe) single nucleotide variant Inborn genetic diseases [RCV002757132] Chr4:109976085 [GRCh38]
Chr4:110897241 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2042A>G (p.Gln681Arg) single nucleotide variant not provided [RCV002796194] Chr4:109976224 [GRCh38]
Chr4:110897380 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2487G>A (p.Val829=) single nucleotide variant not provided [RCV002623166] Chr4:109983537 [GRCh38]
Chr4:110904693 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1308T>C (p.Cys436=) single nucleotide variant not provided [RCV002591775] Chr4:109961981 [GRCh38]
Chr4:110883137 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.655T>C (p.Tyr219His) single nucleotide variant Inborn genetic diseases [RCV002707666] Chr4:109943987 [GRCh38]
Chr4:110865143 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.328-15A>G single nucleotide variant not provided [RCV002844010] Chr4:109943239 [GRCh38]
Chr4:110864395 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3358C>T (p.Gln1120Ter) single nucleotide variant not provided [RCV003100596] Chr4:110008218 [GRCh38]
Chr4:110929374 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.127+9T>C single nucleotide variant not provided [RCV002637253] Chr4:109913471 [GRCh38]
Chr4:110834627 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1767C>G (p.Ser589=) single nucleotide variant not provided [RCV002760688] Chr4:109974745 [GRCh38]
Chr4:110895901 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1891C>T (p.Leu631Phe) single nucleotide variant not provided [RCV002912678] Chr4:109976073 [GRCh38]
Chr4:110897229 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.562G>A (p.Asp188Asn) single nucleotide variant Inborn genetic diseases [RCV003250579]|not provided [RCV002736561] Chr4:109943894 [GRCh38]
Chr4:110865050 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.1253G>T (p.Gly418Val) single nucleotide variant Inborn genetic diseases [RCV002757626] Chr4:109961926 [GRCh38]
Chr4:110883082 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2768G>T (p.Cys923Phe) single nucleotide variant Inborn genetic diseases [RCV002781847] Chr4:109993280 [GRCh38]
Chr4:110914436 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2843G>T (p.Gly948Val) single nucleotide variant Inborn genetic diseases [RCV002757738] Chr4:109993355 [GRCh38]
Chr4:110914511 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2314A>G (p.Met772Val) single nucleotide variant not provided [RCV003077558] Chr4:109980918 [GRCh38]
Chr4:110902074 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2905G>A (p.Val969Ile) single nucleotide variant not provided [RCV002592011] Chr4:109994780 [GRCh38]
Chr4:110915936 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1066+7_1066+30del deletion not provided [RCV002591062] Chr4:109959423..109959446 [GRCh38]
Chr4:110880579..110880602 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1724+15T>A single nucleotide variant not provided [RCV003053948] Chr4:109969134 [GRCh38]
Chr4:110890290 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1858A>C (p.Asn620His) single nucleotide variant Inborn genetic diseases [RCV002692312] Chr4:109976040 [GRCh38]
Chr4:110897196 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2943T>A (p.Asp981Glu) single nucleotide variant not provided [RCV002976539] Chr4:109994818 [GRCh38]
Chr4:110915974 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.659A>G (p.Asn220Ser) single nucleotide variant not provided [RCV003008220] Chr4:109943991 [GRCh38]
Chr4:110865147 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.721A>G (p.Ser241Gly) single nucleotide variant not provided [RCV003043256] Chr4:109944053 [GRCh38]
Chr4:110865209 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1363del (p.Ser455fs) deletion not provided [RCV002871763] Chr4:109963223 [GRCh38]
Chr4:110884379 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2239T>C (p.Tyr747His) single nucleotide variant Inborn genetic diseases [RCV002698858] Chr4:109980843 [GRCh38]
Chr4:110901999 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.465T>G (p.Ser155Arg) single nucleotide variant not provided [RCV002643324] Chr4:109943391 [GRCh38]
Chr4:110864547 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1762C>T (p.Arg588Cys) single nucleotide variant not provided [RCV002573102] Chr4:109974740 [GRCh38]
Chr4:110895896 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.100G>A (p.Ala34Thr) single nucleotide variant not provided [RCV002917223] Chr4:109913435 [GRCh38]
Chr4:110834591 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.574G>A (p.Val192Met) single nucleotide variant Inborn genetic diseases [RCV002803577] Chr4:109943906 [GRCh38]
Chr4:110865062 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2072_2073inv (p.Ala691Val) inversion not provided [RCV002574234] Chr4:109979990..109979991 [GRCh38]
Chr4:110901146..110901147 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3173+6C>T single nucleotide variant not provided [RCV002624493] Chr4:109999852 [GRCh38]
Chr4:110921008 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1270C>T (p.Pro424Ser) single nucleotide variant not provided [RCV002667150] Chr4:109961943 [GRCh38]
Chr4:110883099 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1544A>C (p.Tyr515Ser) single nucleotide variant not provided [RCV003007377] Chr4:109964506 [GRCh38]
Chr4:110885662 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2218C>G (p.Pro740Ala) single nucleotide variant Inborn genetic diseases [RCV002713067] Chr4:109980136 [GRCh38]
Chr4:110901292 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1159G>A (p.Val387Ile) single nucleotide variant not provided [RCV003024903] Chr4:109960959 [GRCh38]
Chr4:110882115 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2424G>C (p.Lys808Asn) single nucleotide variant not provided [RCV002626490] Chr4:109983474 [GRCh38]
Chr4:110904630 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.772C>T (p.Arg258Cys) single nucleotide variant not provided [RCV002626659] Chr4:109945107 [GRCh38]
Chr4:110866263 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3173+19T>C single nucleotide variant not provided [RCV002626736] Chr4:109999865 [GRCh38]
Chr4:110921021 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3484G>A (p.Glu1162Lys) single nucleotide variant not provided [RCV002666600] Chr4:110011315 [GRCh38]
Chr4:110932471 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2221+4C>T single nucleotide variant not provided [RCV003083823] Chr4:109980143 [GRCh38]
Chr4:110901299 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2432T>C (p.Val811Ala) single nucleotide variant not provided [RCV002676501] Chr4:109983482 [GRCh38]
Chr4:110904638 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2946G>A (p.Gly982=) single nucleotide variant not provided [RCV002647114] Chr4:109994821 [GRCh38]
Chr4:110915977 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1190-2A>G single nucleotide variant not provided [RCV003064083] Chr4:109961861 [GRCh38]
Chr4:110883017 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.328-10G>T single nucleotide variant not provided [RCV003065995] Chr4:109943244 [GRCh38]
Chr4:110864400 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.552A>G (p.Arg184=) single nucleotide variant not provided [RCV002602130] Chr4:109943884 [GRCh38]
Chr4:110865040 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3613C>G (p.Leu1205Val) single nucleotide variant not provided [RCV002835172] Chr4:110011444 [GRCh38]
Chr4:110932600 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1438+1G>T single nucleotide variant not provided [RCV002579727] Chr4:109963299 [GRCh38]
Chr4:110884455 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3155G>T (p.Trp1052Leu) single nucleotide variant not provided [RCV002601525] Chr4:109999828 [GRCh38]
Chr4:110920984 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3361G>T (p.Ala1121Ser) single nucleotide variant Inborn genetic diseases [RCV002668817] Chr4:110008221 [GRCh38]
Chr4:110929377 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1206A>G (p.Pro402=) single nucleotide variant not provided [RCV003061602] Chr4:109961879 [GRCh38]
Chr4:110883035 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1671A>G (p.Pro557=) single nucleotide variant not provided [RCV002833554] Chr4:109969066 [GRCh38]
Chr4:110890222 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2372-15A>C single nucleotide variant not provided [RCV002600141] Chr4:109983407 [GRCh38]
Chr4:110904563 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2039C>T (p.Thr680Ile) single nucleotide variant not provided [RCV002963175] Chr4:109976221 [GRCh38]
Chr4:110897377 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1644G>T (p.Arg548Ser) single nucleotide variant Inborn genetic diseases [RCV002809049] Chr4:109969039 [GRCh38]
Chr4:110890195 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1014G>C (p.Leu338Phe) single nucleotide variant Inborn genetic diseases [RCV002855721] Chr4:109959385 [GRCh38]
Chr4:110880541 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3292-16T>A single nucleotide variant not provided [RCV002577235] Chr4:110008136 [GRCh38]
Chr4:110929292 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.2984C>G (p.Ala995Gly) single nucleotide variant not provided [RCV002631710] Chr4:109994859 [GRCh38]
Chr4:110916015 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1106T>C (p.Leu369Pro) single nucleotide variant Inborn genetic diseases [RCV002808291] Chr4:109960906 [GRCh38]
Chr4:110882062 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3083G>C (p.Gly1028Ala) single nucleotide variant not provided [RCV002806793] Chr4:109999756 [GRCh38]
Chr4:110920912 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3371-14del deletion not provided [RCV003047315] Chr4:110011185 [GRCh38]
Chr4:110932341 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.1469del (p.Ser490fs) deletion not provided [RCV002899862] Chr4:109964431 [GRCh38]
Chr4:110885587 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.738-11T>A single nucleotide variant not provided [RCV002600753] Chr4:109945062 [GRCh38]
Chr4:110866218 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2261A>G (p.His754Arg) single nucleotide variant not provided [RCV002632709] Chr4:109980865 [GRCh38]
Chr4:110902021 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3048C>A (p.Asp1016Glu) single nucleotide variant EGF-related condition [RCV003973591]|not provided [RCV002967005] Chr4:109999721 [GRCh38]
Chr4:110920877 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2573T>A (p.Leu858Ter) single nucleotide variant not provided [RCV003045466] Chr4:109987825 [GRCh38]
Chr4:110908981 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1512A>G (p.Gly504=) single nucleotide variant not provided [RCV002770582] Chr4:109964474 [GRCh38]
Chr4:110885630 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1207C>T (p.Arg403Cys) single nucleotide variant not provided [RCV002582366] Chr4:109961880 [GRCh38]
Chr4:110883036 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.940+17C>T single nucleotide variant not provided [RCV002582974] Chr4:109945292 [GRCh38]
Chr4:110866448 [GRCh37]
Chr4:4q25		 benign
NM_001963.6(EGF):c.3383C>A (p.Pro1128Gln) single nucleotide variant not provided [RCV002681064] Chr4:110011214 [GRCh38]
Chr4:110932370 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3241C>T (p.Arg1081Cys) single nucleotide variant not provided [RCV002609186] Chr4:110004572 [GRCh38]
Chr4:110925728 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.588G>A (p.Leu196=) single nucleotide variant not provided [RCV002942329] Chr4:109943920 [GRCh38]
Chr4:110865076 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3492C>T (p.Ser1164=) single nucleotide variant not provided [RCV003092705] Chr4:110011323 [GRCh38]
Chr4:110932479 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1700G>A (p.Arg567His) single nucleotide variant not provided [RCV002610147] Chr4:109969095 [GRCh38]
Chr4:110890251 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1501A>G (p.Thr501Ala) single nucleotide variant not provided [RCV002942596] Chr4:109964463 [GRCh38]
Chr4:110885619 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3335A>C (p.Gln1112Pro) single nucleotide variant not provided [RCV002588857] Chr4:110008195 [GRCh38]
Chr4:110929351 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1599G>A (p.Leu533=) single nucleotide variant not provided [RCV002611350] Chr4:109968994 [GRCh38]
Chr4:110890150 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2053+19C>T single nucleotide variant not provided [RCV002609707] Chr4:109976254 [GRCh38]
Chr4:110897410 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3343G>T (p.Ala1115Ser) single nucleotide variant not provided [RCV003051550] Chr4:110008203 [GRCh38]
Chr4:110929359 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2673C>T (p.Thr891=) single nucleotide variant not provided [RCV002658234] Chr4:109988648 [GRCh38]
Chr4:110909804 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.558T>A (p.Asp186Glu) single nucleotide variant not provided [RCV002681041] Chr4:109943890 [GRCh38]
Chr4:110865046 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1190-19C>T single nucleotide variant not provided [RCV002608147] Chr4:109961844 [GRCh38]
Chr4:110883000 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1854G>A (p.Gly618=) single nucleotide variant not provided [RCV002587815] Chr4:109976036 [GRCh38]
Chr4:110897192 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2371G>A (p.Gly791Ser) single nucleotide variant not provided [RCV002633220] Chr4:109980975 [GRCh38]
Chr4:110902131 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.797T>C (p.Met266Thr) single nucleotide variant not provided [RCV003049680] Chr4:109945132 [GRCh38]
Chr4:110866288 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3553C>G (p.Leu1185Val) single nucleotide variant Inborn genetic diseases [RCV003207664] Chr4:110011384 [GRCh38]
Chr4:110932540 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2018G>A (p.Gly673Asp) single nucleotide variant Inborn genetic diseases [RCV003308932] Chr4:109976200 [GRCh38]
Chr4:110897356 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2723T>C (p.Ile908Thr) single nucleotide variant Inborn genetic diseases [RCV003381231] Chr4:109988698 [GRCh38]
Chr4:110909854 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3532G>T (p.Gly1178Cys) single nucleotide variant Inborn genetic diseases [RCV003386145] Chr4:110011363 [GRCh38]
Chr4:110932519 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2973G>A (p.Met991Ile) single nucleotide variant Inborn genetic diseases [RCV003362144] Chr4:109994848 [GRCh38]
Chr4:110916004 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2053+6G>C single nucleotide variant not provided [RCV003543331] Chr4:109976241 [GRCh38]
Chr4:110897397 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1003C>T (p.Gln335Ter) single nucleotide variant EGF-related condition [RCV003397639] Chr4:109959374 [GRCh38]
Chr4:110880530 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2673C>A (p.Thr891=) single nucleotide variant not provided [RCV003435131] Chr4:109988648 [GRCh38]
Chr4:110909804 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1575+13del deletion not provided [RCV003573785] Chr4:109964549 [GRCh38]
Chr4:110885705 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.453C>T (p.His151=) single nucleotide variant not provided [RCV003825665] Chr4:109943379 [GRCh38]
Chr4:110864535 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1231G>C (p.Asp411His) single nucleotide variant not provided [RCV003691129] Chr4:109961904 [GRCh38]
Chr4:110883060 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.127+13A>G single nucleotide variant not provided [RCV003828611] Chr4:109913475 [GRCh38]
Chr4:110834631 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.341T>G (p.Ile114Arg) single nucleotide variant not provided [RCV003824949] Chr4:109943267 [GRCh38]
Chr4:110864423 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2372-7T>A single nucleotide variant not provided [RCV003572192] Chr4:109983415 [GRCh38]
Chr4:110904571 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2476G>A (p.Glu826Lys) single nucleotide variant not provided [RCV003880145] Chr4:109983526 [GRCh38]
Chr4:110904682 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1070T>C (p.Val357Ala) single nucleotide variant not provided [RCV003544978] Chr4:109960870 [GRCh38]
Chr4:110882026 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2469A>G (p.Leu823=) single nucleotide variant not provided [RCV003878610] Chr4:109983519 [GRCh38]
Chr4:110904675 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.-185_87del (p.Met1fs) deletion not provided [RCV003576757] Chr4:109913150..109913421 [GRCh38]
Chr4:110834306..110834577 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2152A>T (p.Arg718Ter) single nucleotide variant not provided [RCV003694752] Chr4:109980070 [GRCh38]
Chr4:110901226 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2068G>A (p.Val690Ile) single nucleotide variant not provided [RCV003695561] Chr4:109979986 [GRCh38]
Chr4:110901142 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2222-15T>C single nucleotide variant not provided [RCV003686664] Chr4:109980811 [GRCh38]
Chr4:110901967 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1763G>A (p.Arg588His) single nucleotide variant not provided [RCV003826624] Chr4:109974741 [GRCh38]
Chr4:110895897 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2806T>C (p.Tyr936His) single nucleotide variant not provided [RCV003716430] Chr4:109993318 [GRCh38]
Chr4:110914474 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1836A>G (p.Leu612=) single nucleotide variant not provided [RCV003686545] Chr4:109976018 [GRCh38]
Chr4:110897174 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.837C>T (p.Asp279=) single nucleotide variant not provided [RCV003717108] Chr4:109945172 [GRCh38]
Chr4:110866328 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.316T>C (p.Ser106Pro) single nucleotide variant not provided [RCV003833547] Chr4:109941134 [GRCh38]
Chr4:110862290 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3475C>A (p.Gln1159Lys) single nucleotide variant not provided [RCV003697757] Chr4:110011306 [GRCh38]
Chr4:110932462 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3528A>C (p.Glu1176Asp) single nucleotide variant not provided [RCV003836434] Chr4:110011359 [GRCh38]
Chr4:110932515 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1313-3T>C single nucleotide variant not provided [RCV003674264] Chr4:109963170 [GRCh38]
Chr4:110884326 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1829+5G>T single nucleotide variant not provided [RCV003839320] Chr4:109974812 [GRCh38]
Chr4:110895968 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1364G>C (p.Ser455Thr) single nucleotide variant not provided [RCV003850440] Chr4:109963224 [GRCh38]
Chr4:110884380 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3233T>G (p.Val1078Gly) single nucleotide variant not provided [RCV003665816] Chr4:110004564 [GRCh38]
Chr4:110925720 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3371-13G>T single nucleotide variant not provided [RCV003700181] Chr4:110011189 [GRCh38]
Chr4:110932345 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.672C>T (p.Ser224=) single nucleotide variant not provided [RCV003671153] Chr4:109944004 [GRCh38]
Chr4:110865160 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1136A>T (p.Tyr379Phe) single nucleotide variant not provided [RCV003698065] Chr4:109960936 [GRCh38]
Chr4:110882092 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.761T>C (p.Leu254Pro) single nucleotide variant not provided [RCV003664364] Chr4:109945096 [GRCh38]
Chr4:110866252 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.639G>A (p.Arg213=) single nucleotide variant not provided [RCV003837452] Chr4:109943971 [GRCh38]
Chr4:110865127 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1660G>C (p.Val554Leu) single nucleotide variant not provided [RCV003554271] Chr4:109969055 [GRCh38]
Chr4:110890211 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3005+8A>C single nucleotide variant not provided [RCV003727339] Chr4:109994888 [GRCh38]
Chr4:110916044 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3068G>A (p.Arg1023His) single nucleotide variant not provided [RCV003845317] Chr4:109999741 [GRCh38]
Chr4:110920897 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.958T>C (p.Leu320=) single nucleotide variant not provided [RCV003681950] Chr4:109959329 [GRCh38]
Chr4:110880485 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3550T>C (p.Ser1184Pro) single nucleotide variant not provided [RCV003731485] Chr4:110011381 [GRCh38]
Chr4:110932537 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2975A>G (p.Tyr992Cys) single nucleotide variant not provided [RCV003542918] Chr4:109994850 [GRCh38]
Chr4:110916006 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1917T>C (p.Ser639=) single nucleotide variant not provided [RCV003711254] Chr4:109976099 [GRCh38]
Chr4:110897255 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3073G>A (p.Ala1025Thr) single nucleotide variant not provided [RCV003857306] Chr4:109999746 [GRCh38]
Chr4:110920902 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2373T>A (p.Gly791=) single nucleotide variant not provided [RCV003706424] Chr4:109983423 [GRCh38]
Chr4:110904579 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2053+6G>T single nucleotide variant not provided [RCV003682346] Chr4:109976241 [GRCh38]
Chr4:110897397 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1398G>A (p.Gly466=) single nucleotide variant not provided [RCV003682447] Chr4:109963258 [GRCh38]
Chr4:110884414 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.773G>A (p.Arg258His) single nucleotide variant not provided [RCV003845729] Chr4:109945108 [GRCh38]
Chr4:110866264 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3341T>C (p.Val1114Ala) single nucleotide variant not provided [RCV003823291] Chr4:110008201 [GRCh38]
Chr4:110929357 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3171C>T (p.Tyr1057=) single nucleotide variant not provided [RCV003870967] Chr4:109999844 [GRCh38]
Chr4:110921000 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1190-17del deletion not provided [RCV003866875] Chr4:109961845 [GRCh38]
Chr4:110883001 [GRCh37]
Chr4:4q25		 likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
NM_001963.6(EGF):c.3173+15C>G single nucleotide variant not provided [RCV003681797] Chr4:109999861 [GRCh38]
Chr4:110921017 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2336C>T (p.Thr779Met) single nucleotide variant not provided [RCV003872056] Chr4:109980940 [GRCh38]
Chr4:110902096 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.288A>G (p.Gln96=) single nucleotide variant not provided [RCV003859332] Chr4:109941106 [GRCh38]
Chr4:110862262 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3537C>T (p.Val1179=) single nucleotide variant not provided [RCV003722770] Chr4:110011368 [GRCh38]
Chr4:110932524 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1326C>T (p.Pro442=) single nucleotide variant not provided [RCV003731216] Chr4:109963186 [GRCh38]
Chr4:110884342 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.2491+12T>C single nucleotide variant not provided [RCV003847586] Chr4:109983553 [GRCh38]
Chr4:110904709 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.838A>G (p.Met280Val) single nucleotide variant not provided [RCV003870302] Chr4:109945173 [GRCh38]
Chr4:110866329 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2533C>T (p.Arg845Trp) single nucleotide variant not provided [RCV003868812] Chr4:109987785 [GRCh38]
Chr4:110908941 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3025G>A (p.Gly1009Arg) single nucleotide variant not provided [RCV003823212] Chr4:109999698 [GRCh38]
Chr4:110920854 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.1121C>T (p.Thr374Ile) single nucleotide variant not provided [RCV003870545] Chr4:109960921 [GRCh38]
Chr4:110882077 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3313C>G (p.Gln1105Glu) single nucleotide variant not provided [RCV003728953] Chr4:110008173 [GRCh38]
Chr4:110929329 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2608+5G>A single nucleotide variant not provided [RCV003732317] Chr4:109987865 [GRCh38]
Chr4:110909021 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2606C>T (p.Ser869Phe) single nucleotide variant EGF-related condition [RCV003966493]|not provided [RCV003554266] Chr4:109987858 [GRCh38]
Chr4:110909014 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_001963.6(EGF):c.1829+18T>A single nucleotide variant not provided [RCV003853109] Chr4:109974825 [GRCh38]
Chr4:110895981 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.6G>A (p.Leu2=) single nucleotide variant not provided [RCV003866799] Chr4:109913341 [GRCh38]
Chr4:110834497 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3158G>A (p.Gly1053Glu) single nucleotide variant not provided [RCV003542236] Chr4:109999831 [GRCh38]
Chr4:110920987 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.328-14A>G single nucleotide variant not provided [RCV003675932] Chr4:109943240 [GRCh38]
Chr4:110864396 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.2759_2760delinsTA (p.Glu920Val) indel not provided [RCV003728390] Chr4:109993271..109993272 [GRCh38]
Chr4:110914427..110914428 [GRCh37]
Chr4:4q25		 uncertain significance
NM_001963.6(EGF):c.3159G>A (p.Gly1053=) single nucleotide variant not provided [RCV003675033] Chr4:109999832 [GRCh38]
Chr4:110920988 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.3371-8T>C single nucleotide variant not provided [RCV003676253] Chr4:110011194 [GRCh38]
Chr4:110932350 [GRCh37]
Chr4:4q25		 likely benign
NM_001963.6(EGF):c.1258T>C (p.Leu420=) single nucleotide variant EGF-related condition [RCV003909280] Chr4:109961931 [GRCh38]
Chr4:110883087 [GRCh37]
Chr4:4q25		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1443
Count of miRNA genes:738
Interacting mature miRNAs:820
Transcripts:ENST00000265171, ENST00000502579, ENST00000502723, ENST00000503392, ENST00000504633, ENST00000509793, ENST00000509996, ENST00000511228, ENST00000537316, ENST00000540840, ENST00000541061, ENST00000544918
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.

Markers in Region
D4S2623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,889,706 - 110,889,990UniSTSGRCh37
GRCh374110,889,785 - 110,889,990UniSTSGRCh37
Build 364111,109,155 - 111,109,439RGDNCBI36
Celera4108,183,432 - 108,183,712RGD
Celera4108,183,511 - 108,183,712UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map4qUniSTS
Cytogenetic Map4q25UniSTS
HuRef4106,621,811 - 106,622,091UniSTS
HuRef4106,621,890 - 106,622,091UniSTS
Marshfield Genetic Map4114.04UniSTS
Marshfield Genetic Map4114.04RGD
TNG Radiation Hybrid Map467970.0UniSTS
deCODE Assembly Map4113.7UniSTS
Whitehead-RH Map4566.7UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC4-992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,833,069 - 110,833,265UniSTSGRCh37
Build 364111,052,518 - 111,052,714RGDNCBI36
Celera4108,126,800 - 108,126,996RGD
Cytogenetic Map4q25UniSTS
HuRef4106,565,160 - 106,565,356UniSTS
TNG Radiation Hybrid Map468025.0UniSTS
GeneMap99-G3 RH Map46272.0UniSTS
EGF_435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,932,717 - 110,933,445UniSTSGRCh37
Build 364111,152,166 - 111,152,894RGDNCBI36
Celera4108,226,441 - 108,227,169RGD
HuRef4106,664,822 - 106,665,550UniSTS
D4S2350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,848,789 - 110,849,043UniSTSGRCh37
Build 364111,068,238 - 111,068,492RGDNCBI36
Celera4108,142,520 - 108,142,774RGD
Cytogenetic Map4q25UniSTS
HuRef4106,580,899 - 106,581,153UniSTS
Whitehead-RH Map4568.4UniSTS
Whitehead-YAC Contig Map4 UniSTS
D4S3145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374110,932,721 - 110,932,829UniSTSGRCh37
Build 364111,152,170 - 111,152,278RGDNCBI36
Celera4108,226,445 - 108,226,553RGD
Cytogenetic Map4q25UniSTS
HuRef4106,664,826 - 106,664,934UniSTS
TNG Radiation Hybrid Map467984.0UniSTS
GeneMap99-G3 RH Map46279.0UniSTS


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 7 3 5 18 3 1 740 750 8 138 13 34 16 730
Low 608 1080 907 187 400 48 1548 705 1001 209 796 1289 149 1 25 758 2
Below cutoff 1624 1735 588 208 1064 204 1850 730 2635 61 580 236 8 1022 1193 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001357021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF023155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI628974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ131611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY548762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA437074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CU446298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB227969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB349864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ346088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265171   ⟹   ENSP00000265171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,912,883 - 110,013,766 (+)Ensembl
RefSeq Acc Id: ENST00000502579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,968,805 - 109,976,171 (+)Ensembl
RefSeq Acc Id: ENST00000502723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,940,776 - 109,943,972 (+)Ensembl
RefSeq Acc Id: ENST00000503392   ⟹   ENSP00000421384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,913,241 - 110,011,501 (+)Ensembl
RefSeq Acc Id: ENST00000504633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,959,134 - 109,963,206 (+)Ensembl
RefSeq Acc Id: ENST00000509793   ⟹   ENSP00000424316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,912,884 - 110,011,994 (+)Ensembl
RefSeq Acc Id: ENST00000509996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,980,677 - 110,011,689 (+)Ensembl
RefSeq Acc Id: ENST00000511228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,980,641 - 109,987,855 (+)Ensembl
RefSeq Acc Id: ENST00000537316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4110,004,501 - 110,011,491 (+)Ensembl
RefSeq Acc Id: ENST00000540840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4110,004,501 - 110,012,220 (+)Ensembl
RefSeq Acc Id: ENST00000541061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,976,087 - 109,977,536 (+)Ensembl
RefSeq Acc Id: ENST00000544918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4110,004,247 - 110,011,598 (+)Ensembl
RefSeq Acc Id: ENST00000652245   ⟹   ENSP00000498337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4109,912,889 - 110,013,755 (+)Ensembl
RefSeq Acc Id: NM_001178130   ⟹   NP_001171601
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384109,912,883 - 110,013,766 (+)NCBI
GRCh374110,834,040 - 110,934,118 (+)ENTREZGENE
HuRef4106,566,131 - 106,666,223 (+)ENTREZGENE
CHM1_14110,810,552 - 110,910,746 (+)NCBI
T2T-CHM13v2.04113,214,975 - 113,315,858 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178131   ⟹   NP_001171602
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384109,912,883 - 110,013,766 (+)NCBI
GRCh374110,834,040 - 110,934,118 (+)ENTREZGENE
HuRef4106,566,131 - 106,666,223 (+)ENTREZGENE
CHM1_14110,810,552 - 110,910,746 (+)NCBI
T2T-CHM13v2.04113,214,975 - 113,315,858 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001357021   ⟹   NP_001343950
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384109,912,883 - 110,013,766 (+)NCBI
T2T-CHM13v2.04113,214,975 - 113,315,858 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001963   ⟹   NP_001954
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384109,912,883 - 110,013,766 (+)NCBI
GRCh374110,834,040 - 110,934,118 (+)ENTREZGENE
Build 364111,053,499 - 111,152,868 (+)NCBI Archive
HuRef4106,566,131 - 106,666,223 (+)ENTREZGENE
CHM1_14110,810,552 - 110,910,746 (+)NCBI
T2T-CHM13v2.04113,214,975 - 113,315,858 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001954   ⟸   NM_001963
- Peptide Label: isoform 1 preproprotein
- UniProtKB: E9PBF0 (UniProtKB/Swiss-Prot),   E7EVD2 (UniProtKB/Swiss-Prot),   B4DRK7 (UniProtKB/Swiss-Prot),   Q52LZ6 (UniProtKB/Swiss-Prot),   P01133 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171601   ⟸   NM_001178130
- Peptide Label: isoform 2 precursor
- UniProtKB: P01133 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171602   ⟸   NM_001178131
- Peptide Label: isoform 3 precursor
- UniProtKB: P01133 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001343950   ⟸   NM_001357021
- Peptide Label: isoform 4 precursor
- UniProtKB: A0A494C018 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000421384   ⟸   ENST00000503392
RefSeq Acc Id: ENSP00000498337   ⟸   ENST00000652245
RefSeq Acc Id: ENSP00000424316   ⟸   ENST00000509793
RefSeq Acc Id: ENSP00000265171   ⟸   ENST00000265171
Protein Domains
EGF-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01133-F1-model_v2 AlphaFold P01133 1-1207 view protein structure

Promoters
RGD ID:6868270
Promoter ID:EPDNEW_H7300
Type:initiation region
Name:EGF_1
Description:epidermal growth factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7301  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384109,912,884 - 109,912,944EPDNEW
RGD ID:6868272
Promoter ID:EPDNEW_H7301
Type:initiation region
Name:EGF_2
Description:epidermal growth factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7300  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384109,980,705 - 109,980,765EPDNEW
RGD ID:6802178
Promoter ID:HG_KWN:48911
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001178130,   NM_001178131,   NM_001963
Position:
Human AssemblyChrPosition (strand)Source
Build 364111,053,366 - 111,053,866 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3229 AgrOrtholog
COSMIC EGF COSMIC
Ensembl Genes ENSG00000138798 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265171 ENTREZGENE
  ENST00000265171.10 UniProtKB/Swiss-Prot
  ENST00000503392 ENTREZGENE
  ENST00000503392.1 UniProtKB/Swiss-Prot
  ENST00000509793 ENTREZGENE
  ENST00000509793.5 UniProtKB/Swiss-Prot
  ENST00000652245 ENTREZGENE
  ENST00000652245.1 UniProtKB/TrEMBL
Gene3D-CATH 2.120.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138798 GTEx
HGNC ID HGNC:3229 ENTREZGENE
Human Proteome Map EGF Human Proteome Map
InterPro 6-blade_b-propeller_TolB-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_classB_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pro-epidermal_GF UniProtKB/Swiss-Prot
KEGG Report hsa:1950 UniProtKB/Swiss-Prot
NCBI Gene 1950 ENTREZGENE
OMIM 131530 OMIM
PANTHER EGF-LIKE DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  PRO-EPIDERMAL GROWTH FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSFORMING GROWTH FACTOR ALPHA UniProtKB/TrEMBL
  VITELLOGENIN RECEPTOR-LIKE PROTEIN-RELATED-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FXa_inhibition UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldl_recept_b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB EGF RGD, PharmGKB
PIRSF Pro-epidermal_growth_factor UniProtKB/Swiss-Prot
PRINTS EGFTGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00135 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  YWTD domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C018 ENTREZGENE, UniProtKB/TrEMBL
  B4DRK7 ENTREZGENE
  E7EVD2 ENTREZGENE
  E9PBF0 ENTREZGENE
  EGF_HUMAN UniProtKB/Swiss-Prot
  L8EC91_HUMAN UniProtKB/TrEMBL
  P01133 ENTREZGENE
  Q52LZ6 ENTREZGENE
  Q6QBS2_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4DRK7 UniProtKB/Swiss-Prot
  E7EVD2 UniProtKB/Swiss-Prot
  E9PBF0 UniProtKB/Swiss-Prot
  Q52LZ6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 EGF  epidermal growth factor  EGF  epidermal growth factor (beta-urogastrone)  Symbol and/or name change 5135510 APPROVED