AGT (angiotensinogen) - Rat Genome Database

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Gene: AGT (angiotensinogen) Homo sapiens
Analyze
Symbol: AGT
Name: angiotensinogen
RGD ID: 731070
HGNC Page HGNC:333
Description: Enables signaling receptor binding activity and sodium channel regulator activity. Involved in several processes, including positive regulation of CoA-transferase activity; regulation of macromolecule metabolic process; and regulation of signal transduction. Located in blood microparticle; collagen-containing extracellular matrix; and extracellular exosome. Is active in extracellular space. Implicated in several diseases, including Fabry disease; IgA vasculitis; artery disease (multiple); heart conduction disease (multiple); and hydronephrosis. Biomarker of several diseases, including alcoholic hepatitis; chronic myeloid leukemia; intermediate coronary syndrome; systemic scleroderma (multiple); and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-1 antiproteinase, antitrypsin; angiotensin I; angiotensin II; angiotensinogen (serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 8); angiotensinogen (serpin peptidase inhibitor, clade A, member 8); ANHU; fetal-liver predominant transporter 1; FLJ92595; FLJ97926; hFLT1; pre-angiotensinogen; serine (or cysteine) proteinase inhibitor; serpin A8; serpin peptidase inhibitor, clade A, member 8; SERPINA8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381230,702,523 - 230,745,583 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1230,690,776 - 230,745,576 (-)EnsemblGRCh38hg38GRCh38
GRCh371230,838,269 - 230,881,329 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361228,904,892 - 228,916,564 (-)NCBINCBI36Build 36hg18NCBI36
Build 341227,145,019 - 227,156,602NCBI
Celera1204,104,291 - 204,116,358 (-)NCBICelera
Cytogenetic Map1q42.2NCBI
HuRef1201,323,209 - 201,335,277 (-)NCBIHuRef
CHM1_11232,111,282 - 232,123,349 (-)NCBICHM1_1
T2T-CHM13v2.01230,083,077 - 230,126,137 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
abdominal aortic aneurysm  (EXP)
Actin-Accumulation Myopathy  (IAGP)
Albuminuria  (EXP,IEA)
alcoholic cardiomyopathy  (EXP)
alcoholic hepatitis  (IEP)
Alkalosis  (EXP)
allergic disease  (IAGP)
Alzheimer's disease  (IEP)
Anaphylaxis  (IEP)
anemia  (EXP)
Animal Disease Models  (EXP)
anti-basement membrane glomerulonephritis  (ISO)
anuria  (EXP)
aortic aneurysm  (EXP)
Aortic Calcification  (ISO)
Aortic Coarctation  (IAGP)
atherosclerosis  (EXP,ISO)
atrial fibrillation  (IAGP)
bipolar disorder  (IEA)
Bradycardia  (EXP)
breast cancer  (IAGP,IEP)
Cardiac Arrhythmias  (EXP)
Cardiomegaly  (EXP,ISO)
cardiomyopathy  (EXP)
Cardiotoxicity  (EXP)
Cardiovascular Abnormalities  (EXP)
cardiovascular system disease  (EXP,IAGP,IEA)
carotid artery disease  (EXP,IAGP)
Catalepsy  (EXP)
cerebrovascular disease  (IAGP)
Chemical and Drug Induced Liver Injury  (EXP)
cholestasis  (EXP)
Chronic Intermittent Hypoxia  (ISO)
chronic myeloid leukemia  (IEP)
cleidocranial dysplasia  (IAGP)
cognitive disorder  (EXP)
congenital disorder of glycosylation type IIq  (IAGP)
congestive heart failure  (EXP,IAGP,IEP,ISO)
corneal neovascularization  (ISO)
coronary artery disease  (IEA)
COVID-19  (EXP)
Diabetic Cardiomyopathies  (EXP)
Diabetic Nephropathies  (EXP,IAGP,IEA)
diabetic retinopathy  (EXP,IAGP,ISO)
Diaphragmatic Hernia  (EXP)
diffuse scleroderma  (IEP)
dilated cardiomyopathy  (IAGP,ISO)
Dissecting Aneurysm  (EXP)
Drug Overdose  (EXP)
end stage renal disease  (IEA)
endomyocardial fibrosis  (EXP)
essential hypertension  (IAGP)
Experimental Diabetes Mellitus  (EXP)
Experimental Liver Cirrhosis  (EXP)
Experimental Mammary Neoplasms  (IDA)
Fabry disease  (IAGP)
Fetal Growth Retardation  (EXP,IMP,ISO)
Fibrosis  (EXP,ISO)
focal segmental glomerulosclerosis  (EXP,ISO)
gastric ulcer  (ISO)
gastrointestinal stromal tumor  (IAGP)
genetic disease  (IAGP)
glomerulonephritis  (EXP,ISO)
glucose intolerance  (EXP)
heart disease  (EXP)
Hemorrhage  (IAGP)
hydronephrosis  (IMP,ISO)
Hyperalgesia  (EXP)
Hyperemia  (EXP)
hyperhomocysteinemia  (EXP)
hyperinsulinism  (IAGP)
hypertension  (EXP,IAGP,IEA,ISO)
Hypertensive Nephropathy  (ISO)
hypertrophic cardiomyopathy  (IAGP)
Hypertrophy  (EXP)
hypokalemia  (EXP)
Hypotension  (EXP,ISO)
IgA glomerulonephritis  (EXP)
IgA vasculitis  (IAGP)
impotence  (ISO)
Inflammation  (EXP)
inflammatory bowel disease  (IAGP)
intermediate coronary syndrome  (IEP)
Intestinal Reperfusion Injury  (ISO)
kidney disease  (EXP)
kidney failure  (EXP)
Left Ventricular Hypertrophy  (EXP)
liver cirrhosis  (EXP,ISO)
malignant hypertension  (EXP)
meconium aspiration syndrome  (ISO)
Metabolic Syndrome  (ISO)
microcephaly  (IAGP)
middle cerebral artery infarction  (ISO)
mitral valve prolapse  (IAGP,IEA)
multiple sclerosis  (IEP)
myocardial infarction  (EXP,IAGP,IEA,ISO)
Myocardial Ischemia  (EXP)
Myocardial Reperfusion Injury  (EXP)
Necrosis  (EXP)
Neointima  (EXP)
nephrosis  (EXP)
Neurobehavioral Manifestations  (EXP)
obesity  (IAGP)
oligohydramnios  (IAGP)
otosclerosis  (IAGP)
parathyroid carcinoma  (IAGP)
Peptic Ulcer Hemorrhage  (EXP)
pneumonia  (EXP)
polycystic kidney disease  (ISO)
pre-eclampsia  (EXP,IAGP,IMP)
prediabetes syndrome  (ISO)
Pregnancy-Induced Hypertension  (ISO)
Prenatal Exposure Delayed Effects  (ISO)
primary biliary cholangitis  (ISO)
proteinuria  (EXP)
pulmonary edema  (IAGP)
pulmonary fibrosis  (EXP,ISO)
pulmonary hypertension  (ISO)
Puromycin Aminonucleoside Nephrosis  (ISO)
renal hypertension  (EXP)
Renal Tubular Dysgenesis  (EXP,IAGP)
Reperfusion Injury  (EXP)
retinal vasculitis  (ISO)
retinopathy of prematurity  (EXP)
sciatic neuropathy  (ISO)
sick sinus syndrome  (IAGP)
skin melanoma  (IEP)
Stroke  (IAGP,IEA)
Sudden Death  (EXP)
systemic scleroderma  (IEP)
temporal lobe epilepsy  (ISO)
thrombosis  (EXP)
transient cerebral ischemia  (ISO)
type 2 diabetes mellitus  (IAGP,IEP)
ureteral obstruction  (EXP)
vascular disease  (EXP)
Vascular Malformations  (IEP)
Vascular Remodeling  (EXP)
Ventricular Dysfunction, Left  (EXP)
Ventricular Remodeling  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(+)-taxifolin  (ISO)
(1->4)-beta-D-glucan  (ISO)
(R)-lipoic acid  (ISO)
(R)-noradrenaline  (ISO)
(R,R,R)-alpha-tocopherol  (ISO)
(S)-amphetamine  (ISO)
1,2-dichloroethane  (ISO)
1-(5-isoquinolinesulfonyl)-2-methylpiperazine  (ISO)
11-deoxycorticosterone  (ISO)
11-Hydroxyandrostenedione  (EXP)
14,15-EET  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP,ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3',5'-cyclic GMP  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,5-dichloro-N-[[(2S)-1-ethyl-2-pyrrolidinyl]methyl]-2-hydroxy-6-methoxybenzamide  (EXP)
3,7-dihydropurine-6-thione  (ISO)
3-[3-acetyl-4-[3-(tert-butylamino)-2-hydroxypropoxy]phenyl]-1,1-diethylurea  (EXP)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-Hydroperoxy-2-nonenal  (EXP)
4-hydroperoxycyclophosphamide  (EXP)
4-hydroxy-TEMPO  (ISO)
4-hydroxynon-2-enal  (EXP)
4-phenylbutyric acid  (ISO)
5-(2-methylpiperazine-1-sulfonyl)isoquinoline  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-oxoprostaglandin F1alpha  (ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP,ISO)
8-Br-cAMP  (EXP)
8-hydroxy-2'-deoxyguanosine  (EXP)
AACOCF3  (ISO)
Ac-Ser-Asp-Lys-Pro-OH  (EXP,ISO)
acadesine  (ISO)
acetamide  (ISO)
acetylcholine  (ISO)
acetylsalicylic acid  (EXP)
actinomycin D  (EXP,ISO)
adefovir  (ISO)
Adenosine, cyclic 3',5'-[hydrogen [p(s)]-phosphorothioate]  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (EXP,ISO)
aldosterone  (EXP,ISO)
aliskiren  (ISO)
all-trans-retinoic acid  (ISO)
allopurinol  (ISO)
alpha-cyano-4-hydroxycinnamic acid  (ISO)
alpha-Zearalanol  (ISO)
amidotrizoic acid  (ISO)
amiloride  (EXP,ISO)
amiodarone  (EXP,ISO)
amitrole  (ISO)
amlodipine  (EXP)
ammonia  (ISO)
ammonium chloride  (ISO)
Ampullosporin  (ISO)
angiotensin II  (EXP,ISO)
ANTIMYCIN  (ISO)
apocynin  (EXP,ISO)
arachidonic acid  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (ISO)
aspartame  (EXP)
astressin  (ISO)
atenolol  (EXP)
atorvastatin calcium  (ISO)
Azoxymethane  (ISO)
azoxystrobin  (ISO)
bafilomycin A1  (ISO)
BAPTA  (ISO)
benazepril  (EXP,ISO)
benidipine  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
beta-endorphin  (ISO)
biopterin  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
bisphenol AF  (EXP)
bisphenol F  (ISO)
boric acid  (ISO)
BQ 123  (ISO)
brefeldin A  (ISO)
brimonidine tartrate  (ISO)
Brodifacoum  (ISO)
Brusatol  (EXP)
bucladesine  (EXP)
butan-1-ol  (EXP,ISO)
butanal  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calciol  (ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
Calphostin C  (ISO)
candesartan  (EXP,ISO)
Candesartan cilexetil  (EXP,ISO)
captopril  (EXP,ISO)
carbon monoxide  (ISO)
carbon nanotube  (ISO)
carbonyl cyanide p-trifluoromethoxyphenylhydrazone  (ISO)
carmustine  (EXP)
carvedilol  (EXP,ISO)
CCCP  (ISO)
CGP-42112A  (ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
chromium atom  (ISO)
chymostatin  (EXP,ISO)
ciglitazone  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
clozapine  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cordycepin  (EXP)
corticosterone  (EXP)
cortisol  (EXP)
crotonaldehyde  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
D-glucose  (EXP,ISO)
DDE  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
dibenziodolium  (ISO)
diethyl malate  (ISO)
diminazene diaceturate  (EXP,ISO)
dioxygen  (ISO)
diquat  (ISO)
disodium cromoglycate  (ISO)
diuron  (ISO)
dopamine  (EXP)
dorsomorphin  (EXP,ISO)
doxorubicin  (EXP,ISO)
doxycycline  (ISO)
EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor  (EXP,ISO)
efonidipine hydrochloride  (EXP)
elcometrine  (EXP)
ellagic acid  (ISO)
emodin  (ISO)
enalapril  (EXP,ISO)
enalaprilat dihydrate  (EXP,ISO)
endosulfan  (ISO)
eplerenone  (ISO)
ergosta-4,6,8(14),22-tetraen-3-one  (EXP,ISO)
ethanol  (ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
famotidine  (ISO)
fenofibrate  (ISO)
flavonoids  (EXP)
flutamide  (ISO)
folic acid  (ISO)
fosinopril  (ISO)
fructose  (ISO)
fulvestrant  (EXP,ISO)
fumonisin B1  (EXP,ISO)
furan  (ISO)
furosemide  (EXP)
genistein  (EXP)
gentamycin  (ISO)
Ginkgoic acid  (ISO)
glucose  (EXP,ISO)
glutathione  (EXP,ISO)
glutathione disulfide  (EXP,ISO)
glycerol  (ISO)
glycochenodeoxycholic acid  (ISO)
glyphosate  (ISO)
goralatide  (EXP,ISO)
Harpagide  (ISO)
heparin  (ISO)
hydralazine  (ISO)
hydrazines  (ISO)
hydrogen peroxide  (EXP,ISO)
hydrogen sulfide  (EXP)
ibuprofen  (ISO)
icatibant  (ISO)
ICI 118551  (ISO)
Ile(5)-angiotensin II  (EXP,ISO)
imidacloprid  (ISO)
imidaprilat  (ISO)
imperatorin  (ISO)
indometacin  (EXP,ISO)
iohexol  (ISO)
irbesartan  (EXP,ISO)
irinotecan  (EXP)
isoprenaline  (EXP,ISO)
isorhamnetin  (ISO)
isorhapontigenin  (ISO)
ketamine  (EXP,ISO)
ketoconazole  (ISO)
L-ascorbic acid  (EXP,ISO)
L-erythro-biopterin  (ISO)
L-ethionine  (ISO)
labetalol  (EXP)
lactacystin  (ISO)
lead(0)  (EXP,ISO)
levonorgestrel  (EXP)
linoleic acid hydroperoxide  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
lipoxin A4  (ISO)
lisinopril dihydrate  (EXP,ISO)
losartan  (EXP,ISO)
LY294002  (ISO)
Magnolol  (ISO)
malonaldehyde  (EXP,ISO)
mangiferin  (ISO)
medroxyprogesterone acetate  (EXP)
melatonin  (ISO)
mercaptopurine  (ISO)
mercury dichloride  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methotrexate  (ISO)
methylglyoxal  (ISO)
mevalonic acid  (ISO)
Mibefradil  (EXP)
microcystin RR  (ISO)
midostaurin  (ISO)
miquelianin  (EXP)
mithramycin  (ISO)
MK-2206  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monocrotaline  (ISO)
montelukast  (EXP)
mycophenolic acid  (ISO)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (ISO)
N-acetyl-L-cysteine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-desethylamiodarone  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-methylnicotinate  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
naloxone  (ISO)
naringin  (EXP)
nebivolol  (ISO)
Neferine  (EXP)
nerolidol  (ISO)
nickel atom  (EXP)
nicorandil  (ISO)
nicotinic acid  (EXP,ISO)
nimesulide  (ISO)
nitric oxide  (EXP,ISO)
nitrites  (ISO)
nitrofen  (ISO)
nitrofurantoin  (ISO)
nitroprusside  (ISO)
NS-398  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
okadaic acid  (ISO)
olmesartan  (EXP,ISO)
oltipraz  (ISO)
omeprazole  (ISO)
ouabain  (ISO)
ozone  (ISO)
Pachymic acid  (EXP,ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
parathion  (ISO)
PD 168393  (ISO)
PD123319  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
perindopril  (EXP,ISO)
peroxynitrous acid  (ISO)
phenobarbital  (ISO)
phenylarsine oxide  (ISO)
phenylephrine  (EXP,ISO)
phorbol 13-acetate 12-myristate  (ISO)
phosphatidic acid  (ISO)
phosphoramidon  (ISO)
pifithrin-alpha hydrobromide  (ISO)
pindolol  (EXP)
pioglitazone  (ISO)
pirfenidone  (EXP,ISO)
pirinixic acid  (ISO)
potassium atom  (EXP)
potassium dichromate  (ISO)
pravastatin  (ISO)
pregabalin  (ISO)
probenecid  (ISO)
progesterone  (EXP,ISO)
propanal  (EXP)
propranolol  (EXP,ISO)
prostaglandin E1  (EXP)
prostaglandin E2  (ISO)
prostaglandin I2  (ISO)
prostaglandins E  (ISO)
purine-6-thiol  (ISO)
purines  (ISO)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (EXP,ISO)
quinacrine  (ISO)
quinapril hydrochloride  (ISO)
raloxifene  (EXP)
reactive oxygen species  (EXP,ISO)
reboxetine  (EXP)
resveratrol  (EXP,ISO)
rotenone  (EXP,ISO)
rottlerin  (ISO)
rutin  (ISO)
salubrinal  (ISO)
saralasin  (ISO)
SB 203580  (ISO)
scopolamine  (EXP)
sevoflurane  (ISO)
sildenafil citrate  (EXP,ISO)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (EXP,ISO)
sirolimus  (ISO)
sodium arsenite  (EXP,ISO)
sodium atom  (EXP,ISO)
sodium chloride  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (ISO)
spironolactone  (EXP,ISO)
streptozocin  (ISO)
succimer  (EXP)
sucrose  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (EXP,ISO)
sunitinib  (EXP)
superoxide  (EXP,ISO)
tamibarotene  (ISO)
tamoxifen  (EXP)
taurine  (ISO)
taurolithocholic acid sulfate  (ISO)
tauroursodeoxycholic acid  (ISO)
telmisartan  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
Testosterone propionate  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
Theaflavin 3,3'-digallate  (ISO)
thiabendazole  (ISO)
thioacetamide  (ISO)
thiopental  (EXP)
Thiorphan  (EXP,ISO)
Tiron  (EXP,ISO)
titanium dioxide  (EXP,ISO)
torasemide  (ISO)
trandolapril  (ISO)
trans-piceid  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triticonazole  (ISO)
troglitazone  (EXP)
tyrphostin AG 1478  (ISO)
U-73122  (ISO)
valproic acid  (EXP,ISO)
valsartan  (EXP,ISO)
Vinpocetine  (ISO)
vismodegib  (EXP)
wortmannin  (ISO)
xanthone  (ISO)
xestospongin C  (ISO)
zaragozic acid A  (ISO)
zearalenone  (EXP)
zinc atom  (EXP,ISO)
zinc protoporphyrin  (EXP)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adenylate cyclase-activating G protein-coupled receptor signaling pathway  (ISO)
aldosterone secretion  (ISO)
angiotensin-activated signaling pathway  (IDA,IMP)
angiotensin-mediated drinking behavior  (ISO)
angiotensin-mediated vasoconstriction involved in regulation of systemic arterial blood pressure  (ISO)
angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure  (ISO)
artery smooth muscle contraction  (ISO)
associative learning  (ISO)
astrocyte activation  (ISO)
blood vessel development  (ISO)
blood vessel diameter maintenance  (IEA)
blood vessel remodeling  (TAS)
brain renin-angiotensin system  (ISO)
branching involved in ureteric bud morphogenesis  (ISO)
cell growth involved in cardiac muscle cell development  (ISO)
cell population proliferation  (ISO)
cell surface receptor signaling pathway  (ISO)
cell-cell signaling  (TAS)
cell-matrix adhesion  (ISO)
cellular response to angiotensin  (ISO)
cellular response to mechanical stimulus  (ISO)
cytokine production  (ISO)
drinking behavior  (ISO)
ERK1 and ERK2 cascade  (ISO)
establishment of blood-nerve barrier  (ISO)
extracellular matrix organization  (ISO)
female pregnancy  (ISO)
fibroblast proliferation  (ISO)
G protein-coupled receptor signaling pathway  (IDA,ISO)
G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger  (TAS)
hormone metabolic process  (ISO)
intracellular sodium ion homeostasis  (ISO)
kidney development  (IMP,ISO)
low-density lipoprotein particle remodeling  (NAS)
maintenance of blood vessel diameter homeostasis by renin-angiotensin  (IDA,TAS)
MAPK cascade  (ISO)
negative regulation of angiogenesis  (ISO)
negative regulation of cell growth  (ISO)
negative regulation of cell population proliferation  (ISO)
negative regulation of gene expression  (IDA)
negative regulation of MAP kinase activity  (IMP)
negative regulation of neuron apoptotic process  (ISO)
negative regulation of neurotrophin TRK receptor signaling pathway  (IDA)
negative regulation of smooth muscle cell proliferation  (ISO)
negative regulation of sodium ion transmembrane transport  (TAS)
negative regulation of tissue remodeling  (ISO)
negative regulation of vascular associated smooth muscle cell proliferation  (ISO)
neuron apoptotic process  (ISO)
nitric oxide-cGMP-mediated signaling  (TAS)
operant conditioning  (ISO)
organ growth  (ISO)
ovarian follicle rupture  (ISO)
peristalsis  (ISO)
phospholipase C-activating G protein-coupled receptor signaling pathway  (NAS)
positive regulation of blood pressure  (ISO)
positive regulation of branching involved in ureteric bud morphogenesis  (IDA)
positive regulation of canonical NF-kappaB signal transduction  (ISO)
positive regulation of cardiac muscle cell apoptotic process  (ISO)
positive regulation of cardiac muscle hypertrophy  (ISS)
positive regulation of cell population proliferation  (ISO)
positive regulation of cholesterol metabolic process  (IDA)
positive regulation of cytokine production  (IDA)
positive regulation of cytosolic calcium ion concentration  (ISO)
positive regulation of DNA-templated transcription  (IDA)
positive regulation of endothelial cell migration  (IDA)
positive regulation of epidermal growth factor receptor signaling pathway  (IDA)
positive regulation of epithelial to mesenchymal transition  (ISS)
positive regulation of extracellular matrix assembly  (IDA)
positive regulation of extracellular matrix constituent secretion  (ISO)
positive regulation of extrinsic apoptotic signaling pathway  (IDA)
positive regulation of fatty acid biosynthetic process  (ISO)
positive regulation of fibroblast proliferation  (ISS)
positive regulation of gap junction assembly  (IGI)
positive regulation of gene expression  (ISO)
positive regulation of inflammatory response  (IDA,TAS)
positive regulation of insulin receptor signaling pathway  (ISO)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (ISO)
positive regulation of L-arginine import across plasma membrane  (ISO)
positive regulation of L-lysine import across plasma membrane  (ISO)
positive regulation of macrophage derived foam cell differentiation  (IDA)
positive regulation of MAPK cascade  (ISO)
positive regulation of membrane hyperpolarization  (IMP)
positive regulation of miRNA transcription  (IMP)
positive regulation of multicellular organism growth  (ISO)
positive regulation of neuron projection development  (ISO)
positive regulation of nitric oxide biosynthetic process  (ISO)
positive regulation of norepinephrine secretion  (ISO)
positive regulation of organ growth  (ISO)
positive regulation of peptidyl-serine phosphorylation  (ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IDA)
positive regulation of protein kinase C activity  (ISO)
positive regulation of reactive oxygen species metabolic process  (IDA)
positive regulation of superoxide anion generation  (ISO,TAS)
positive regulation of vascular associated smooth muscle cell migration  (ISO)
positive regulation of vascular associated smooth muscle cell proliferation  (ISO)
protein import into nucleus  (ISO)
regulation of apoptotic process  (IBA,ISO)
regulation of blood pressure  (IGI,ISO)
regulation of blood volume by renin-angiotensin  (NAS)
regulation of calcium ion transport  (ISO)
regulation of cardiac conduction  (IGI)
regulation of cell growth  (NAS)
regulation of cell population proliferation  (NAS)
regulation of extracellular matrix assembly  (IGI)
regulation of gene expression  (ISO)
regulation of heart rate  (ISO)
regulation of inflammatory response  (ISO)
regulation of long-term neuronal synaptic plasticity  (ISO)
regulation of renal output by angiotensin  (ISO,NAS)
regulation of renal sodium excretion  (NAS)
regulation of systemic arterial blood pressure by circulatory renin-angiotensin  (ISO)
regulation of systemic arterial blood pressure by renin-angiotensin  (IEA)
regulation of transmission of nerve impulse  (ISO)
regulation of vasoconstriction  (NAS)
renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure  (ISO)
renal system process  (IDA)
renin-angiotensin regulation of aldosterone production  (ISO,NAS)
response to angiotensin  (IBA,IDA)
response to cold  (ISO)
response to estradiol  (ISO)
response to mechanical stimulus  (ISO)
response to muscle activity involved in regulation of muscle adaptation  (ISS)
response to salt stress  (ISO)
smooth muscle cell differentiation  (ISO)
smooth muscle cell proliferation  (ISO)
stress-activated MAPK cascade  (ISO)
uterine smooth muscle contraction  (ISO)
vascular associated smooth muscle cell proliferation  (ISO)
vasoconstriction  (IEA,ISO)
vasodilation  (ISO)
vasopressin secretion  (ISO)

Cellular Component

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

References - curated
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71. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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81. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
82. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
83. Genetic analysis of angiotensinogen gene polymorphisms (M235T and T174M) in Romanian patients with essential arterial hypertension. Procopciuc LM, etal., Rom J Intern Med. 2005;43(1-2):61-71.
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86. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
87. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
88. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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94. Angiotensinogen M235T polymorphism and the risk of myocardial infarction and stroke among hypertensive patients on ACE-inhibitors or beta-blockers. Schelleman H, etal., Eur J Hum Genet. 2007 Apr;15(4):478-84. Epub 2007 Feb 14.
95. No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population. Schrauwen I, etal., Otol Neurotol. 2009 Dec;30(8):1079-83. doi: 10.1097/MAO.0b013e3181ab3058.
96. Polymorphisms of renin-angiotensin system genes as a risk factor for high-altitude pulmonary oedema. Stobdan T, etal., J Renin Angiotensin Aldosterone Syst. 2011 Mar 10.
97. Angiotensin-(1-7) inhibits vascular calcification in rats. Sui YB, etal., Peptides. 2013 Apr;42:25-34. doi: 10.1016/j.peptides.2012.12.023. Epub 2013 Jan 3.
98. Salt-induced renal injury in SHRs is mediated by AT1 receptor activation. Susic D, etal., J Hypertens. 2011 Apr;29(4):716-23.
99. Angiotensinogen gene polymorphism (Met235Thr) influences visceral obesity and insulin resistance in obese Japanese women. Takakura Y, etal., Metabolism. 2006 Jun;55(6):819-24.
100. Angiotensin-(1-7) inhibits growth of cardiac myocytes through activation of the mas receptor. Tallant EA, etal., Am J Physiol Heart Circ Physiol. 2005 Oct;289(4):H1560-6. Epub 2005 Jun 10.
101. The role of HIF-1, angiopoietin-2, Dll4 and Notch1 in bleeding gastrointestinal vascular malformations and thalidomide-associated actions: a pilot in vivo study. Tan HH, etal., J Dig Dis. 2011 Oct;12(5):349-56. doi: 10.1111/j.1751-2980.2011.00506.x.
102. Polymorphisms within the angiotensinogen gene (GT-repeat) and the risk of stroke in pediatric patients with sickle cell disease: a case-control study. Tang DC, etal., Am J Hematol. 2001 Nov;68(3):164-9.
103. Renin-angiotensin system gene polymorphisms and atrial fibrillation: a regression approach for the detection of gene-gene interactions in a large hospitalized population. Tsai CT, etal., Cardiology. 2008;111(1):1-7. doi: 10.1159/000113419. Epub 2008 Feb 1.
104. Murine double nullizygotes of the angiotensin type 1A and 1B receptor genes duplicate severe abnormal phenotypes of angiotensinogen nullizygotes. Tsuchida S, etal., J Clin Invest 1998 Feb 15;101(4):755-60.
105. Addition of angiotensin II type 1 receptor blocker to CCR2 antagonist markedly attenuates crescentic glomerulonephritis. Urushihara M, etal., Hypertension. 2011 Mar;57(3):586-93. Epub 2011 Jan 31.
106. Inhibition of corneal neovascularization by blocking the angiotensin II type 1 receptor. Usui T, etal., Invest Ophthalmol Vis Sci. 2008 Oct;49(10):4370-6. doi: 10.1167/iovs.07-0964.
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PMID:27162064   PMID:27285537   PMID:27310975   PMID:27329205   PMID:27398822   PMID:27432541   PMID:27445100   PMID:27447725   PMID:27586550   PMID:27590243   PMID:27638906   PMID:27788506  
PMID:27801805   PMID:27807688   PMID:27903492   PMID:27910864   PMID:27927648   PMID:27982687   PMID:28004760   PMID:28005267   PMID:28106497   PMID:28119542   PMID:28120210   PMID:28205588  
PMID:28283184   PMID:28302554   PMID:28395289   PMID:28402544   PMID:28467442   PMID:28488548   PMID:28490451   PMID:28514442   PMID:28575445   PMID:28641212   PMID:28712073   PMID:28747358  
PMID:28768720   PMID:28797632   PMID:28798388   PMID:28988519   PMID:29053707   PMID:29277264   PMID:29303211   PMID:29351514   PMID:29366364   PMID:29378484   PMID:29432515   PMID:29578435  
PMID:29674190   PMID:29763087   PMID:29802847   PMID:29984662   PMID:30080282   PMID:30179652   PMID:30340829   PMID:30351652   PMID:30383794   PMID:30389500   PMID:30409744   PMID:30521887  
PMID:30563843   PMID:30700972   PMID:30719178   PMID:30729664   PMID:30798697   PMID:30798724   PMID:30912862   PMID:30915766   PMID:30930452   PMID:31048445   PMID:31061349   PMID:31084929  
PMID:31090060   PMID:31120634   PMID:31142626   PMID:31201268   PMID:31273033   PMID:31379247   PMID:31442828   PMID:31637747   PMID:31836539   PMID:31873176   PMID:32025262   PMID:32093874  
PMID:32242890   PMID:32265040   PMID:32344395   PMID:32356512   PMID:32535722   PMID:32572956   PMID:32640904   PMID:32667032   PMID:32673509   PMID:32679678   PMID:32741247   PMID:32751352  
PMID:32814053   PMID:32871819   PMID:32873146   PMID:32880990   PMID:33173183   PMID:33223956   PMID:33230614   PMID:33231620   PMID:33302801   PMID:33309638   PMID:33423909   PMID:33459093  
PMID:33461312   PMID:33480126   PMID:33511992   PMID:33612680   PMID:33657582   PMID:33668947   PMID:33961781   PMID:34025779   PMID:34107716   PMID:34192828   PMID:34240732   PMID:34275374  
PMID:34285710   PMID:34499692   PMID:34570572   PMID:34603502   PMID:34655849   PMID:34732716   PMID:34757767   PMID:34758666   PMID:34793856   PMID:34798372   PMID:34860335   PMID:34933429  
PMID:34952427   PMID:35030476   PMID:35317386   PMID:35328506   PMID:35458690   PMID:35696571   PMID:36018774   PMID:36042680   PMID:36174930   PMID:36215168   PMID:36360218   PMID:36421822  
PMID:36478297   PMID:36481346   PMID:36525166   PMID:36598307   PMID:36853865   PMID:36999649   PMID:37343697   PMID:37455529   PMID:37460637   PMID:37802686   PMID:37909169   PMID:37922976  
PMID:38061470   PMID:38105755   PMID:38265173   PMID:38279313   PMID:38380450   PMID:38489704   PMID:38492325   PMID:38622720   PMID:38690851   PMID:39127136  


Genomics

Comparative Map Data
AGT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381230,702,523 - 230,745,583 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1230,690,776 - 230,745,576 (-)EnsemblGRCh38hg38GRCh38
GRCh371230,838,269 - 230,881,329 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361228,904,892 - 228,916,564 (-)NCBINCBI36Build 36hg18NCBI36
Build 341227,145,019 - 227,156,602NCBI
Celera1204,104,291 - 204,116,358 (-)NCBICelera
Cytogenetic Map1q42.2NCBI
HuRef1201,323,209 - 201,335,277 (-)NCBIHuRef
CHM1_11232,111,282 - 232,123,349 (-)NCBICHM1_1
T2T-CHM13v2.01230,083,077 - 230,126,137 (-)NCBIT2T-CHM13v2.0
Agt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398125,283,326 - 125,296,445 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8125,283,273 - 125,296,445 (-)EnsemblGRCm39 Ensembl
GRCm388124,556,587 - 124,569,706 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8124,556,534 - 124,569,706 (-)EnsemblGRCm38mm10GRCm38
MGSCv378127,080,487 - 127,093,607 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368127,442,677 - 127,455,773 (-)NCBIMGSCv36mm8
Celera8128,860,995 - 128,873,954 (-)NCBICelera
Cytogenetic Map8E2NCBI
cM Map872.81NCBI
Agt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81969,426,540 - 69,447,017 (-)NCBIGRCr8
mRatBN7.21952,529,139 - 52,549,618 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1952,529,185 - 52,540,977 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1959,313,724 - 59,325,510 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01960,165,792 - 60,177,589 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01962,240,179 - 62,251,965 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01957,321,594 - 57,333,460 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1957,321,640 - 57,333,433 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01968,026,182 - 68,038,550 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41954,738,556 - 54,750,349 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11954,743,436 - 54,755,230 (-)NCBI
Celera1951,899,180 - 51,910,819 (-)NCBICelera
Cytogenetic Map19q12NCBI
Agt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554927,866,833 - 7,873,357 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554927,863,662 - 7,874,863 (+)NCBIChiLan1.0ChiLan1.0
AGT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2118,492,156 - 18,503,638 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1118,684,644 - 18,696,136 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01206,252,141 - 206,263,830 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11211,279,015 - 211,291,044 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1211,279,015 - 211,291,044 (-)Ensemblpanpan1.1panPan2
AGT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.148,681,192 - 8,694,059 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl48,683,798 - 8,693,880 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha48,672,874 - 8,685,743 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.048,705,485 - 8,718,357 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl48,705,603 - 8,718,382 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.148,709,653 - 8,722,523 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.048,831,567 - 8,844,457 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.049,061,768 - 9,074,658 (+)NCBIUU_Cfam_GSD_1.0
Agt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934443,547,972 - 43,555,916 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648419,716,165 - 19,721,261 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648419,713,299 - 19,721,144 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1459,643,292 - 59,656,833 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11459,643,030 - 59,656,835 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21464,380,799 - 64,385,995 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AGT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12567,964,840 - 67,977,006 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2567,962,401 - 67,973,324 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605569,870,396 - 69,882,850 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Agt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477518,849,118 - 18,855,577 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477518,846,222 - 18,856,093 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AGT
256 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000001.11:g.230710048A>G single nucleotide variant Hypertension, essential, susceptibility to [RCV000019691]|Hypertensive disorder [RCV002259306]|Renal tubular dysgenesis [RCV000405686]|not provided [RCV000835695]|not specified [RCV000242838] Chr1:230710048 [GRCh38]
Chr1:230845794 [GRCh37]
Chr1:1q42.2		 risk factor|benign
AGT, -6A HAPLOTYPE single nucleotide variant Crohn disease, association with [RCV000019695]|Hypertension, essential, susceptibility to [RCV000019694] Chr1:1q42-q43 pathogenic|risk factor
NC_000001.11:g.230705933C>T single nucleotide variant Renal tubular dysgenesis [RCV000019696] Chr1:230705933 [GRCh38]
Chr1:230841679 [GRCh37]
Chr1:1q42.2		 pathogenic
NC_000001.11:g.230710247G>A single nucleotide variant Renal tubular dysgenesis [RCV000019697] Chr1:230710247 [GRCh38]
Chr1:230845993 [GRCh37]
Chr1:1q42.2		 pathogenic
NC_000001.11:g.230703316del deletion Renal tubular dysgenesis [RCV000019698] Chr1:230703309 [GRCh38]
Chr1:230839055 [GRCh37]
Chr1:1q42.2		 pathogenic
NM_001384479.1(AGT):c.374T>C single nucleotide variant Essential hypertension, genetic [RCV002507273]|not provided [RCV000722543] Chr1:230710450 [GRCh38]
Chr1:230846196 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3 copy number gain See cases [RCV000050291] Chr1:230519755..231232066 [GRCh38]
Chr1:230655501..231367812 [GRCh37]
Chr1:228722124..229434435 [NCBI36]
Chr1:1q42.2		 uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)x3 copy number gain See cases [RCV000051559] Chr1:229883805..231517553 [GRCh38]
Chr1:230019552..231653299 [GRCh37]
Chr1:228086175..229719922 [NCBI36]
Chr1:1q42.13-42.2		 uncertain significance
GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3 copy number gain See cases [RCV000051560] Chr1:230489657..231243203 [GRCh38]
Chr1:230625403..231378949 [GRCh37]
Chr1:228692026..229445572 [NCBI36]
Chr1:1q42.13-42.2		 uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.2(chr1:230693760-230780212)x1 copy number loss See cases [RCV000053984] Chr1:230693760..230780212 [GRCh38]
Chr1:230829506..230915958 [GRCh37]
Chr1:228896129..228982581 [NCBI36]
Chr1:1q42.2		 pathogenic
NC_000001.11:g.230703170G>A single nucleotide variant not provided [RCV002795451] Chr1:230703170 [GRCh38]
Chr1:230838916 [GRCh37]
Chr1:228905539 [NCBI36]
Chr1:1q42.2		 uncertain significance|not provided
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 copy number loss See cases [RCV000135796] Chr1:226185124..232872488 [GRCh38]
Chr1:226372825..233008234 [GRCh37]
Chr1:224439448..231074857 [NCBI36]
Chr1:1q42.12-42.2		 pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3 copy number gain See cases [RCV000148222] Chr1:230519755..231232066 [GRCh38]
Chr1:230655501..231367812 [GRCh37]
Chr1:228722124..229434435 [NCBI36]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230706171C>T single nucleotide variant Renal tubular dysgenesis [RCV000407068]|not provided [RCV002059455] Chr1:230706171 [GRCh38]
Chr1:230841917 [GRCh37]
Chr1:1q42.2		 benign|uncertain significance
NM_001382817.3(AGT):c.-30-3273G>A single nucleotide variant Hypertension, essential, susceptibility to [RCV002221221]|Renal tubular dysgenesis [RCV000262949]|not provided [RCV000835696] Chr1:230714126 [GRCh38]
Chr1:230849872 [GRCh37]
Chr1:1q42.2		 pathogenic|risk factor|benign
NC_000001.11:g.230703254G>C single nucleotide variant Renal tubular dysgenesis [RCV000273592] Chr1:230703254 [GRCh38]
Chr1:230839000 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230704308A>G single nucleotide variant AGT-related disorder [RCV003930230]|Renal tubular dysgenesis [RCV000280174]|not provided [RCV000894534] Chr1:230704308 [GRCh38]
Chr1:230840054 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NC_000001.11:g.230706106G>A single nucleotide variant Essential hypertension, genetic [RCV002494921]|Renal tubular dysgenesis [RCV000281333]|not provided [RCV002520454] Chr1:230706106 [GRCh38]
Chr1:230841852 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NC_000001.11:g.230710439C>A single nucleotide variant Essential hypertension, genetic [RCV002487312]|Renal tubular dysgenesis [RCV000272090]|Renal tubular dysgenesis of genetic origin [RCV005008275]|not provided [RCV002520456] Chr1:230710439 [GRCh38]
Chr1:230846185 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230710231G>A single nucleotide variant Renal tubular dysgenesis [RCV000366681]|not provided [RCV001651343] Chr1:230710231 [GRCh38]
Chr1:230710231..230710232 [GRCh38]
Chr1:230845977 [GRCh37]
Chr1:230845977..230845978 [GRCh37]
Chr1:1q42.2		 benign|likely benign
NM_001384479.1(AGT):c.856G>T single nucleotide variant Renal tubular dysgenesis [RCV000306174]|Renal tubular dysgenesis of genetic origin [RCV005016693] Chr1:230706174 [GRCh38]
Chr1:230841920 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230710177T>G single nucleotide variant Essential hypertension, genetic [RCV002487311]|Renal tubular dysgenesis [RCV000307338]|not provided [RCV002520455] Chr1:230710177 [GRCh38]
Chr1:230845923 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NC_000001.11:g.230704350T>C single nucleotide variant Renal tubular dysgenesis [RCV000335269]|not provided [RCV001718596] Chr1:230704350 [GRCh38]
Chr1:230840096 [GRCh37]
Chr1:1q42.2		 benign
NC_000001.11:g.230710700A>G single nucleotide variant AGT-related disorder [RCV003930231]|Renal tubular dysgenesis [RCV000332892]|not provided [RCV000963786]|not specified [RCV001357255] Chr1:230710700 [GRCh38]
Chr1:230846446 [GRCh37]
Chr1:1q42.2		 benign|likely benign|uncertain significance
NC_000001.11:g.230703274G>A single nucleotide variant AGT-related disorder [RCV003967839]|Essential hypertension, genetic [RCV002502175]|Renal tubular dysgenesis [RCV000333287]|not provided [RCV000888640] Chr1:230703274 [GRCh38]
Chr1:230839020 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NC_000001.11:g.230706166G>A single nucleotide variant Renal tubular dysgenesis [RCV000341129] Chr1:230706166 [GRCh38]
Chr1:230841912 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230710008G>A single nucleotide variant AGT-related disorder [RCV003949983]|Renal tubular dysgenesis [RCV000342352] Chr1:230710008 [GRCh38]
Chr1:230845754 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NC_000001.11:g.230705941T>C single nucleotide variant Essential hypertension, genetic [RCV002500843]|Renal tubular dysgenesis [RCV000375752]|not provided [RCV001668403]|not specified [RCV000250884] Chr1:230705941 [GRCh38]
Chr1:230841687 [GRCh37]
Chr1:1q42.2		 benign|likely benign
NC_000001.11:g.230702854C>T single nucleotide variant Renal tubular dysgenesis [RCV000272426] Chr1:230702854 [GRCh38]
Chr1:230838600 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001382817.3(AGT):c.-30-3287A>C single nucleotide variant Renal tubular dysgenesis [RCV000377471]|not provided [RCV001651344] Chr1:230714140 [GRCh38]
Chr1:230849886 [GRCh37]
Chr1:1q42.2		 benign|likely benign
NC_000001.11:g.230702627C>T single nucleotide variant Renal tubular dysgenesis [RCV000301934] Chr1:230702627 [GRCh38]
Chr1:230838373 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001382817.3(AGT):c.-30-3451G>A single nucleotide variant Renal tubular dysgenesis [RCV000288780] Chr1:230714304 [GRCh38]
Chr1:230850050 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001382817.3(AGT):c.-30-3419G>A single nucleotide variant Renal tubular dysgenesis [RCV000342647]|not provided [RCV004710770] Chr1:230714272 [GRCh38]
Chr1:230850018 [GRCh37]
Chr1:1q42.2		 likely benign
NC_000001.11:g.230702718A>C single nucleotide variant Renal tubular dysgenesis [RCV000307627] Chr1:230702718 [GRCh38]
Chr1:230838464 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001382817.3(AGT):c.-30-3484G>A single nucleotide variant Renal tubular dysgenesis [RCV000343947]|not provided [RCV001723880] Chr1:230714337 [GRCh38]
Chr1:230850083 [GRCh37]
Chr1:1q42.2		 benign
NM_001382817.3(AGT):c.-30-3549C>T single nucleotide variant Renal tubular dysgenesis [RCV000308977] Chr1:230714402 [GRCh38]
Chr1:230850148 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230702974A>G single nucleotide variant Renal tubular dysgenesis [RCV000327527] Chr1:230702974 [GRCh38]
Chr1:230838720 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230702585G>T single nucleotide variant Renal tubular dysgenesis [RCV000390829]|not provided [RCV004713631] Chr1:230702585 [GRCh38]
Chr1:230838331 [GRCh37]
Chr1:1q42.2		 benign
NM_001382817.3(AGT):c.-30-3652G>A single nucleotide variant Renal tubular dysgenesis [RCV000392018] Chr1:230714505 [GRCh38]
Chr1:230850251 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001382817.3(AGT):c.-30-3527G>A single nucleotide variant Renal tubular dysgenesis [RCV000392035] Chr1:230714380 [GRCh38]
Chr1:230850126 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001382817.3(AGT):c.-30-3629T>C single nucleotide variant Renal tubular dysgenesis [RCV000349786] Chr1:230714482 [GRCh38]
Chr1:230850228 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230714111G>A single nucleotide variant Renal tubular dysgenesis [RCV000371624] Chr1:230714111 [GRCh38]
Chr1:230849857 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001382817.3(AGT):c.-30-3415G>A single nucleotide variant Renal tubular dysgenesis [RCV000283004] Chr1:230714268 [GRCh38]
Chr1:230850014 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230702633G>A single nucleotide variant Renal tubular dysgenesis [RCV000266691] Chr1:230702633 [GRCh38]
Chr1:230838379 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230710588A>G single nucleotide variant Renal tubular dysgenesis [RCV000277902] Chr1:230710588 [GRCh38]
Chr1:230846334 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230702757T>G single nucleotide variant Renal tubular dysgenesis [RCV000362285] Chr1:230702757 [GRCh38]
Chr1:230838503 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001382817.3(AGT):c.-30-3277G>A single nucleotide variant Renal tubular dysgenesis [RCV000318145] Chr1:230714130 [GRCh38]
Chr1:230849876 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230710577C>T single nucleotide variant Inborn genetic diseases [RCV004021429]|Renal tubular dysgenesis [RCV000367752]|not provided [RCV002520457] Chr1:230710577 [GRCh38]
Chr1:230846323 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NC_000001.11:g.230703058C>T single nucleotide variant Renal tubular dysgenesis [RCV000386467] Chr1:230703058 [GRCh38]
Chr1:230838804 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1195G>A single nucleotide variant Renal tubular dysgenesis [RCV000387779]|Renal tubular dysgenesis of genetic origin [RCV005008274] Chr1:230704240 [GRCh38]
Chr1:230839986 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230702512G>A single nucleotide variant Renal tubular dysgenesis [RCV000382965]|not provided [RCV004713928] Chr1:230702512 [GRCh38]
Chr1:230838258 [GRCh37]
Chr1:1q42.2		 benign
NC_000001.11:g.230710524C>T single nucleotide variant Renal tubular dysgenesis [RCV000313046] Chr1:230710524 [GRCh38]
Chr1:230846270 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230702628G>T single nucleotide variant Renal tubular dysgenesis [RCV000361239] Chr1:230702628 [GRCh38]
Chr1:230838374 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001382817.3(AGT):c.-30-3420C>T single nucleotide variant Renal tubular dysgenesis [RCV000378541] Chr1:230714273 [GRCh38]
Chr1:230850019 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_000029.4(AGT):c.499_512dup (p.Cys171Ter) duplication not provided [RCV000722746] Chr1:230710338..230710339 [GRCh38]
Chr1:230846084..230846085 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001384479.1(AGT):c.829+1G>T single nucleotide variant Essential hypertension, genetic [RCV002489210]|not provided [RCV000493969] Chr1:230709994 [GRCh38]
Chr1:230845740 [GRCh37]
Chr1:1q42.2		 pathogenic|likely pathogenic
NM_001384479.1(AGT):c.1060C>T single nucleotide variant Essential hypertension, genetic [RCV002496897]|not provided [RCV000492929] Chr1:230705970 [GRCh38]
Chr1:230841716 [GRCh37]
Chr1:1q42.2		 pathogenic|likely pathogenic
GRCh37/hg19 1q42.13-42.2(chr1:230619349-231413907)x3 copy number gain See cases [RCV000511859] Chr1:230619349..231413907 [GRCh37]
Chr1:1q42.13-42.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
NM_001384479.1(AGT):c.234G>T (p.Gln78His) single nucleotide variant AGT-related disorder [RCV004756502]|Inborn genetic diseases [RCV003240052]|Renal tubular dysgenesis of genetic origin [RCV005021875] Chr1:230710590 [GRCh38]
Chr1:230846336 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44		 pathogenic
NM_001384479.1(AGT):c.161_162delinsT (p.Lys54fs) indel Large fontanelles [RCV001807655] Chr1:230710662..230710663 [GRCh38]
Chr1:230846408..230846409 [GRCh37]
Chr1:1q42.2		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.11:g.230710542G>A single nucleotide variant Essential hypertension, genetic [RCV002502625]|not provided [RCV000896893] Chr1:230710542 [GRCh38]
Chr1:230846288 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.1097+170T>C single nucleotide variant not provided [RCV001707021] Chr1:230705763 [GRCh38]
Chr1:230841509 [GRCh37]
Chr1:1q42.2		 benign
NM_001384479.1(AGT):c.829+186C>T single nucleotide variant not provided [RCV001610221] Chr1:230709809 [GRCh38]
Chr1:230845555 [GRCh37]
Chr1:1q42.2		 benign
NC_000001.11:g.230710284G>A single nucleotide variant not provided [RCV000923506] Chr1:230710284 [GRCh38]
Chr1:230846030 [GRCh37]
Chr1:1q42.2		 benign
NC_000001.11:g.230706145G>A single nucleotide variant Essential hypertension, genetic [RCV002502676]|Renal tubular dysgenesis [RCV001098336]|not provided [RCV000903072] Chr1:230706145 [GRCh38]
Chr1:230841891 [GRCh37]
Chr1:1q42.2		 benign|likely benign
NC_000001.11:g.230710461C>T single nucleotide variant Essential hypertension, genetic [RCV002487998]|not provided [RCV000922423] Chr1:230710461 [GRCh38]
Chr1:230846207 [GRCh37]
Chr1:1q42.2		 likely benign
NC_000001.11:g.230710812G>A single nucleotide variant not provided [RCV000919514] Chr1:230710812 [GRCh38]
Chr1:230846558 [GRCh37]
Chr1:1q42.2		 likely benign
NC_000001.11:g.230710653G>T single nucleotide variant not provided [RCV000940446] Chr1:230710653 [GRCh38]
Chr1:230846399 [GRCh37]
Chr1:1q42.2		 likely benign
NM_000029.4(AGT):c.1125-10A>G single nucleotide variant not provided [RCV000918472] Chr1:230704347 [GRCh38]
Chr1:230840093 [GRCh37]
Chr1:1q42.2		 likely benign
NC_000001.11:g.230703204A>G single nucleotide variant Essential hypertension, genetic [RCV002487940]|not provided [RCV000885589] Chr1:230703204 [GRCh38]
Chr1:230838950 [GRCh37]
Chr1:1q42.2		 likely benign
NC_000001.11:g.230706034G>A single nucleotide variant Renal tubular dysgenesis [RCV001096605]|not provided [RCV000894304] Chr1:230706034 [GRCh38]
Chr1:230841780 [GRCh37]
Chr1:1q42.2		 benign
NC_000001.11:g.230706039C>T single nucleotide variant Renal tubular dysgenesis [RCV001096606] Chr1:230706039 [GRCh38]
Chr1:230841785 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230705986C>A single nucleotide variant Renal tubular dysgenesis [RCV001096602] Chr1:230705986 [GRCh38]
Chr1:230841732 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230706003C>T single nucleotide variant Renal tubular dysgenesis [RCV001096603]|Renal tubular dysgenesis of genetic origin [RCV005005038]|not provided [RCV002555985] Chr1:230706003 [GRCh38]
Chr1:230841749 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230702915A>G single nucleotide variant Renal tubular dysgenesis [RCV001098249] Chr1:230702915 [GRCh38]
Chr1:230838661 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230706007G>C single nucleotide variant not provided [RCV000980303] Chr1:230706007 [GRCh38]
Chr1:230841753 [GRCh37]
Chr1:1q42.2		 likely benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3 copy number gain not provided [RCV001005187] Chr1:228832737..240993877 [GRCh37]
Chr1:1q42.13-43		 pathogenic
NC_000001.11:g.230706004A>G single nucleotide variant Renal tubular dysgenesis [RCV001096604] Chr1:230706004 [GRCh38]
Chr1:230841750 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.77G>A (p.Arg26Gln) single nucleotide variant Renal tubular dysgenesis [RCV001175178] Chr1:230710747 [GRCh38]
Chr1:230846493 [GRCh37]
Chr1:1q42.2		 likely pathogenic
NC_000001.11:g.230703298G>A single nucleotide variant Essential hypertension, genetic [RCV002482181]|Renal tubular dysgenesis [RCV001102003]|Renal tubular dysgenesis of genetic origin [RCV005021443]|not provided [RCV005093484] Chr1:230703298 [GRCh38]
Chr1:230839044 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230710823T>A single nucleotide variant Renal tubular dysgenesis [RCV001102123]|Renal tubular dysgenesis of genetic origin [RCV005021445]|not provided [RCV003558668] Chr1:230710823 [GRCh38]
Chr1:230846569 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
NM_001384479.1(AGT):c.53G>A (p.Trp18Ter) single nucleotide variant not provided [RCV003106689] Chr1:230710771 [GRCh38]
Chr1:230846517 [GRCh37]
Chr1:1q42.2		 pathogenic
NM_001384479.1(AGT):c.-30-244G>A single nucleotide variant not provided [RCV001617770] Chr1:230711097 [GRCh38]
Chr1:230846843 [GRCh37]
Chr1:1q42.2		 benign
NM_001384479.1(AGT):c.1098-186T>C single nucleotide variant not provided [RCV001615895] Chr1:230704523 [GRCh38]
Chr1:230840269 [GRCh37]
Chr1:1q42.2		 benign
NM_001384479.1(AGT):c.-30-80A>G single nucleotide variant not provided [RCV001649655] Chr1:230710933 [GRCh38]
Chr1:230846679 [GRCh37]
Chr1:1q42.2		 benign
NM_001384479.1(AGT):c.1097+118C>T single nucleotide variant not provided [RCV001614362] Chr1:230705815 [GRCh38]
Chr1:230841561 [GRCh37]
Chr1:1q42.2		 benign
NM_001384479.1(AGT):c.-31+1130G>A single nucleotide variant not provided [RCV001670960] Chr1:230712956 [GRCh38]
Chr1:230848702 [GRCh37]
Chr1:1q42.2		 benign
NC_000001.11:g.230710559C>T single nucleotide variant AGT-related disorder [RCV003960791]|not provided [RCV000967941] Chr1:230710559 [GRCh38]
Chr1:230846305 [GRCh37]
Chr1:1q42.2		 benign
NC_000001.11:g.230703157G>A single nucleotide variant AGT-related disorder [RCV004756144]|Renal tubular dysgenesis [RCV001100025]|not provided [RCV000974896] Chr1:230703157 [GRCh38]
Chr1:230838903 [GRCh37]
Chr1:1q42.2		 likely benign
NM_000029.4(AGT):c.984C>T (p.Asn328=) single nucleotide variant not provided [RCV000926763] Chr1:230706073 [GRCh38]
Chr1:230841819 [GRCh37]
Chr1:1q42.2		 likely benign
NC_000001.11:g.230710441G>A single nucleotide variant AGT-related disorder [RCV003923089]|Essential hypertension, genetic [RCV002502705]|Renal tubular dysgenesis [RCV001100122]|not provided [RCV000906753] Chr1:230710441 [GRCh38]
Chr1:230846187 [GRCh37]
Chr1:1q42.2		 benign|likely benign
NC_000001.11:g.230702983G>C single nucleotide variant Renal tubular dysgenesis [RCV001100023]|not provided [RCV004714182] Chr1:230702983 [GRCh38]
Chr1:230838729 [GRCh37]
Chr1:1q42.2		 benign
NC_000001.11:g.230702527T>C single nucleotide variant Renal tubular dysgenesis [RCV001096498] Chr1:230702527 [GRCh38]
Chr1:230838273 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230710155A>G single nucleotide variant Renal tubular dysgenesis [RCV001100121]|not provided [RCV000913365] Chr1:230710155 [GRCh38]
Chr1:230845901 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NM_001384479.1(AGT):c.906C>A single nucleotide variant AGT-related disorder [RCV003895690]|Essential hypertension, genetic [RCV002489248]|not provided [RCV000935963] Chr1:230706124 [GRCh38]
Chr1:230841870 [GRCh37]
Chr1:1q42.2		 likely benign
NC_000001.11:g.230710455G>A single nucleotide variant Essential hypertension, genetic [RCV002479048]|not provided [RCV000911274] Chr1:230710455 [GRCh38]
Chr1:230846201 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.862C>T single nucleotide variant Essential hypertension, genetic [RCV002489485]|not provided [RCV000994282] Chr1:230706168 [GRCh38]
Chr1:230841914 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1098-114G>T single nucleotide variant not provided [RCV001688925] Chr1:230704451 [GRCh38]
Chr1:230840197 [GRCh37]
Chr1:1q42.2		 benign
GRCh37/hg19 1q42.13-42.2(chr1:230616084-231410027)x3 copy number gain not provided [RCV001005189] Chr1:230616084..231410027 [GRCh37]
Chr1:1q42.13-42.2		 uncertain significance
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NC_000001.11:g.230710724G>A single nucleotide variant Renal tubular dysgenesis [RCV001102121]|Renal tubular dysgenesis of genetic origin [RCV005021444]|not provided [RCV001759868] Chr1:230710724 [GRCh38]
Chr1:230846470 [GRCh37]
Chr1:1q42.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001384479.1(AGT):c.31A>C single nucleotide variant Essential hypertension, genetic [RCV002482182]|Renal tubular dysgenesis [RCV001102122] Chr1:230710793 [GRCh38]
Chr1:230846539 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230704229C>A single nucleotide variant AGT-related disorder [RCV003953472]|Renal tubular dysgenesis [RCV001102005]|not provided [RCV003413913] Chr1:230704229 [GRCh38]
Chr1:230839975 [GRCh37]
Chr1:1q42.2		 benign|likely benign|uncertain significance
NC_000001.11:g.230710703T>A single nucleotide variant Renal tubular dysgenesis [RCV001102120]|not provided [RCV002069709] Chr1:230710703 [GRCh38]
Chr1:230846449 [GRCh37]
Chr1:1q42.2		 benign|uncertain significance
NC_000001.11:g.230702930G>A single nucleotide variant Renal tubular dysgenesis [RCV001100021] Chr1:230702930 [GRCh38]
Chr1:230838676 [GRCh37]
Chr1:1q42.2		 likely benign
NC_000001.11:g.230702982C>T single nucleotide variant Renal tubular dysgenesis [RCV001100022] Chr1:230702982 [GRCh38]
Chr1:230838728 [GRCh37]
Chr1:1q42.2		 likely benign
NC_000001.11:g.230703101G>A single nucleotide variant Renal tubular dysgenesis [RCV001100024] Chr1:230703101 [GRCh38]
Chr1:230838847 [GRCh37]
Chr1:1q42.2		 likely benign
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NC_000001.11:g.230710079C>T single nucleotide variant Renal tubular dysgenesis [RCV001100120] Chr1:230710079 [GRCh38]
Chr1:230845825 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230702853G>A single nucleotide variant Renal tubular dysgenesis [RCV001098248] Chr1:230702853 [GRCh38]
Chr1:230838599 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230710009T>C single nucleotide variant Renal tubular dysgenesis [RCV001098337]|not provided [RCV001572917] Chr1:230710009 [GRCh38]
Chr1:230845755 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NC_000001.11:g.230704201C>T single nucleotide variant Renal tubular dysgenesis [RCV001102004]|not provided [RCV002554985] Chr1:230704201 [GRCh38]
Chr1:230839947 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230704288G>T single nucleotide variant AGT-related disorder [RCV003953473]|Renal tubular dysgenesis [RCV001102006]|not provided [RCV002554986] Chr1:230704288 [GRCh38]
Chr1:230840034 [GRCh37]
Chr1:1q42.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000001.11:g.230702794C>T single nucleotide variant Renal tubular dysgenesis [RCV001098247] Chr1:230702794 [GRCh38]
Chr1:230838540 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230710689C>T single nucleotide variant Renal tubular dysgenesis [RCV001102119] Chr1:230710689 [GRCh38]
Chr1:230846435 [GRCh37]
Chr1:1q42.2		 uncertain significance
NC_000001.11:g.230714107C>G single nucleotide variant Renal tubular dysgenesis [RCV001102124] Chr1:230714107 [GRCh38]
Chr1:230849853 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_000029.4(AGT):c.1270-1G>A single nucleotide variant Microcephaly [RCV001252821] Chr1:230703330 [GRCh38]
Chr1:230839076 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.76C>T (p.Arg26Trp) single nucleotide variant Anhydramnios [RCV001807665]|Essential hypertension, genetic [RCV002489840]|Essential hypertension, genetic [RCV003989714] Chr1:230710748 [GRCh38]
Chr1:230846494 [GRCh37]
Chr1:1q42.2		 likely pathogenic|uncertain significance
NM_001384479.1(AGT):c.1263dup (p.Glu422Ter) duplication Large fontanelles [RCV001807656] Chr1:230703308..230703309 [GRCh38]
Chr1:230839054..230839055 [GRCh37]
Chr1:1q42.2		 likely pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_001384479.1(AGT):c.704T>G (p.Leu235Arg) single nucleotide variant not provided [RCV001355261] Chr1:230710120 [GRCh38]
Chr1:230845866 [GRCh37]
Chr1:1q42.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001384479.1(AGT):c.1097+120C>T single nucleotide variant not provided [RCV001694401] Chr1:230705813 [GRCh38]
Chr1:230841559 [GRCh37]
Chr1:1q42.2		 benign
NM_001384479.1(AGT):c.1345C>T (p.Arg449Cys) single nucleotide variant not provided [RCV001457333] Chr1:230703227 [GRCh38]
Chr1:230838973 [GRCh37]
Chr1:1q42.2		 likely benign|conflicting interpretations of pathogenicity
NM_001384479.1(AGT):c.1405G>A (p.Val469Met) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005021793]|not provided [RCV003107229] Chr1:230703167 [GRCh38]
Chr1:230838913 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.380C>T (p.Pro127Leu) single nucleotide variant Essential hypertension, genetic [RCV002488546]|not provided [RCV001767313] Chr1:230710444 [GRCh38]
Chr1:230846190 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) copy number loss not specified [RCV002052878] Chr1:226131690..231908227 [GRCh37]
Chr1:1q42.12-42.2		 likely pathogenic
NM_001384479.1(AGT):c.65C>G (p.Ala22Gly) single nucleotide variant not provided [RCV001947642] Chr1:230710759 [GRCh38]
Chr1:230846505 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1097G>T (p.Arg366Leu) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005016907]|not provided [RCV001967789] Chr1:230705933 [GRCh38]
Chr1:230841679 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.952G>C (p.Asp318His) single nucleotide variant Essential hypertension, genetic [RCV002507013]|not provided [RCV001927889] Chr1:230706078 [GRCh38]
Chr1:230841824 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538) copy number loss not specified [RCV002052889] Chr1:228214912..231483538 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic
NC_000001.10:g.(?_229567246)_(232172577_?)dup duplication Actin accumulation myopathy [RCV003120751]|not provided [RCV001943051] Chr1:229567246..232172577 [GRCh37]
Chr1:1q42.13-42.2		 uncertain significance|no classifications from unflagged records
NC_000001.10:g.(?_230838887)_(230846596_?)del deletion not provided [RCV001975206] Chr1:230838887..230846596 [GRCh37]
Chr1:1q42.2		 pathogenic
NM_001384479.1(AGT):c.13G>A (p.Gly5Ser) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005002744]|not provided [RCV001974097] Chr1:230710811 [GRCh38]
Chr1:230846557 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1315A>G (p.Lys439Glu) single nucleotide variant not provided [RCV001875690] Chr1:230703257 [GRCh38]
Chr1:230839003 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.286A>G (p.Met96Val) single nucleotide variant not provided [RCV002127639] Chr1:230710538 [GRCh38]
Chr1:230846284 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.1180_1182dup (p.Ala394dup) duplication not provided [RCV002110308] Chr1:230704252..230704253 [GRCh38]
Chr1:230839998..230839999 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.388G>C (p.Val130Leu) single nucleotide variant not provided [RCV002194678] Chr1:230710436 [GRCh38]
Chr1:230846182 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.264C>T (p.Thr88=) single nucleotide variant Essential hypertension, genetic [RCV002479898]|not provided [RCV002097901] Chr1:230710560 [GRCh38]
Chr1:230846306 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.830-20G>A single nucleotide variant Essential hypertension, genetic [RCV002496113]|not provided [RCV002181894] Chr1:230706220 [GRCh38]
Chr1:230841966 [GRCh37]
Chr1:1q42.2		 likely benign
NC_000001.10:g.(?_230203028)_(231413288_?)del deletion Congenital disorder of glycosylation, type IIq [RCV003109448]|not provided [RCV003113491] Chr1:230203028..231413288 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic|no classifications from unflagged records
NM_001384479.1(AGT):c.684C>T (p.Arg228=) single nucleotide variant not provided [RCV003114731] Chr1:230710140 [GRCh38]
Chr1:230845886 [GRCh37]
Chr1:1q42.2		 likely benign
NC_000001.10:g.(?_229567246)_(231413288_?)del deletion not provided [RCV003116710] Chr1:229567246..231413288 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_001384479.1(AGT):c.382A>G (p.Thr128Ala) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005019600]|not provided [RCV003073758] Chr1:230710442 [GRCh38]
Chr1:230846188 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.370G>A (p.Val124Ile) single nucleotide variant Inborn genetic diseases [RCV004067233]|Renal tubular dysgenesis of genetic origin [RCV005019489]|not provided [RCV002947799] Chr1:230710454 [GRCh38]
Chr1:230846200 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NM_001384479.1(AGT):c.221C>T (p.Ala74Val) single nucleotide variant not provided [RCV002947863] Chr1:230710603 [GRCh38]
Chr1:230846349 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.-17G>C single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005019474]|not provided [RCV002947343] Chr1:230710840 [GRCh38]
Chr1:230846586 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3 copy number gain not provided [RCV002475638] Chr1:227992928..236659905 [GRCh37]
Chr1:1q42.13-43		 likely pathogenic
NM_001384479.1(AGT):c.332T>C (p.Met111Thr) single nucleotide variant Inborn genetic diseases [RCV002818343] Chr1:230710492 [GRCh38]
Chr1:230846238 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.310T>C (p.Leu104=) single nucleotide variant AGT-related disorder [RCV003903779]|not provided [RCV002775928] Chr1:230710514 [GRCh38]
Chr1:230846260 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.151G>A (p.Gly51Arg) single nucleotide variant Inborn genetic diseases [RCV002687648] Chr1:230710673 [GRCh38]
Chr1:230846419 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_001384479.1(AGT):c.-17G>A single nucleotide variant not provided [RCV002621905] Chr1:230710840 [GRCh38]
Chr1:230846586 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1403G>A (p.Arg468His) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005019479]|not provided [RCV002923243] Chr1:230703169 [GRCh38]
Chr1:230838915 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1097+8C>T single nucleotide variant not provided [RCV003077983] Chr1:230705925 [GRCh38]
Chr1:230841671 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.103G>A (p.Val35Ile) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005019644]|not provided [RCV003081513] Chr1:230710721 [GRCh38]
Chr1:230846467 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.933G>A (p.Gln311=) single nucleotide variant not provided [RCV002866702] Chr1:230706097 [GRCh38]
Chr1:230841843 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.603C>T (p.Gly201=) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005008606]|not provided [RCV002569660] Chr1:230710221 [GRCh38]
Chr1:230845967 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NM_001384479.1(AGT):c.1332G>A (p.Glu444=) single nucleotide variant not provided [RCV003054494] Chr1:230703240 [GRCh38]
Chr1:230838986 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.763G>A (p.Gly255Ser) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005010809]|not provided [RCV002948598] Chr1:230710061 [GRCh38]
Chr1:230845807 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NM_001384479.1(AGT):c.1236G>C (p.Val412=) single nucleotide variant not provided [RCV002785439] Chr1:230704199 [GRCh38]
Chr1:230839945 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.830-11C>G single nucleotide variant not provided [RCV002570305] Chr1:230706211 [GRCh38]
Chr1:230841957 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.830-15C>T single nucleotide variant not provided [RCV002576198] Chr1:230706215 [GRCh38]
Chr1:230841961 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.770C>T (p.Ser257Phe) single nucleotide variant Inborn genetic diseases [RCV002956564]|Renal tubular dysgenesis of genetic origin [RCV005011161] Chr1:230710054 [GRCh38]
Chr1:230845800 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.185C>T (p.Pro62Leu) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005021560]|not provided [RCV003082479] Chr1:230710639 [GRCh38]
Chr1:230846385 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NM_001384479.1(AGT):c.150C>T (p.Ala50=) single nucleotide variant not provided [RCV003081959] Chr1:230710674 [GRCh38]
Chr1:230846420 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.1365G>A (p.Val455=) single nucleotide variant not provided [RCV002805619] Chr1:230703207 [GRCh38]
Chr1:230838953 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.511G>A (p.Val171Ile) single nucleotide variant not provided [RCV003008096] Chr1:230710313 [GRCh38]
Chr1:230846059 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1207C>A (p.Gln403Lys) single nucleotide variant not provided [RCV002595259] Chr1:230704228 [GRCh38]
Chr1:230839974 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.703C>T (p.Leu235=) single nucleotide variant not provided [RCV002595316] Chr1:230710121 [GRCh38]
Chr1:230845867 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.1346G>A (p.Arg449His) single nucleotide variant Inborn genetic diseases [RCV002697367] Chr1:230703226 [GRCh38]
Chr1:230838972 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.914C>G (p.Ser305Cys) single nucleotide variant not provided [RCV002953935] Chr1:230706116 [GRCh38]
Chr1:230841862 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_001384479.1(AGT):c.1404C>T (p.Arg468=) single nucleotide variant not provided [RCV003090565] Chr1:230703168 [GRCh38]
Chr1:230838914 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.894A>C (p.Ser298=) single nucleotide variant not provided [RCV002582017] Chr1:230706136 [GRCh38]
Chr1:230841882 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.303C>T (p.Ala101=) single nucleotide variant not provided [RCV002582018] Chr1:230710521 [GRCh38]
Chr1:230846267 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.803C>A (p.Ala268Asp) single nucleotide variant Inborn genetic diseases [RCV002934880] Chr1:230710021 [GRCh38]
Chr1:230845767 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.817G>A (p.Val273Ile) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005011016]|not provided [RCV002602413] Chr1:230710007 [GRCh38]
Chr1:230845753 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.246C>T (p.Val82=) single nucleotide variant not provided [RCV002895891] Chr1:230710578 [GRCh38]
Chr1:230846324 [GRCh37]
Chr1:1q42.2		 benign
NM_001384479.1(AGT):c.782C>G (p.Ala261Gly) single nucleotide variant Inborn genetic diseases [RCV002748577] Chr1:230710042 [GRCh38]
Chr1:230845788 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.203C>G (p.Ser68Cys) single nucleotide variant not provided [RCV003048490] Chr1:230710621 [GRCh38]
Chr1:230846367 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.351C>T (p.Gly117=) single nucleotide variant AGT-related disorder [RCV003963399]|not provided [RCV002900184] Chr1:230710473 [GRCh38]
Chr1:230846219 [GRCh37]
Chr1:1q42.2		 benign|likely benign
NM_001384479.1(AGT):c.594G>A (p.Thr198=) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005021587]|not provided [RCV002602578] Chr1:230710230 [GRCh38]
Chr1:230845976 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NM_001384479.1(AGT):c.1243-12G>T single nucleotide variant not provided [RCV002587284] Chr1:230703341 [GRCh38]
Chr1:230839087 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.494G>A (p.Arg165Gln) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005019292]|not provided [RCV002635076] Chr1:230710330 [GRCh38]
Chr1:230846076 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.983C>T (p.Thr328Ile) single nucleotide variant Inborn genetic diseases [RCV002723763] Chr1:230706047 [GRCh38]
Chr1:230841793 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.858C>T (p.Ala286=) single nucleotide variant not provided [RCV002607024] Chr1:230706172 [GRCh38]
Chr1:230841918 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.1379C>A (p.Ala460Asp) single nucleotide variant Inborn genetic diseases [RCV003202837] Chr1:230703193 [GRCh38]
Chr1:230838939 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 copy number loss Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV003327728] Chr1:230178121..243646135 [GRCh38]
Chr1:1q42.13-44		 pathogenic
NM_001384479.1(AGT):c.992C>G (p.Ala331Gly) single nucleotide variant Inborn genetic diseases [RCV003365036] Chr1:230706038 [GRCh38]
Chr1:230841784 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1351T>A (p.Phe451Ile) single nucleotide variant not provided [RCV003489541] Chr1:230703221 [GRCh38]
Chr1:230838967 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1 copy number loss not provided [RCV003484077] Chr1:230231959..238032346 [GRCh37]
Chr1:1q42.13-43		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44		 pathogenic
NM_001384479.1(AGT):c.323T>G (p.Ile108Arg) single nucleotide variant AGT-related disorder [RCV003402941] Chr1:230710501 [GRCh38]
Chr1:230846247 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1017C>T (p.His339=) single nucleotide variant not provided [RCV003828846] Chr1:230706013 [GRCh38]
Chr1:230841759 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.-24C>T single nucleotide variant not provided [RCV003829331] Chr1:230710847 [GRCh38]
Chr1:230846593 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.1125G>A (p.Leu375=) single nucleotide variant not provided [RCV003716169] Chr1:230704310 [GRCh38]
Chr1:230840056 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.749del (p.Thr250fs) deletion Renal tubular dysgenesis of genetic origin [RCV005012993]|not provided [RCV003489540] Chr1:230710075 [GRCh38]
Chr1:230845821 [GRCh37]
Chr1:1q42.2		 likely pathogenic|uncertain significance
NM_001384479.1(AGT):c.669T>G (p.Pro223=) single nucleotide variant not provided [RCV003697882] Chr1:230710155 [GRCh38]
Chr1:230845901 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.1179C>T (p.Pro393=) single nucleotide variant AGT-related disorder [RCV003921369]|not provided [RCV003837899] Chr1:230704256 [GRCh38]
Chr1:230840002 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.810C>T (p.Asn270=) single nucleotide variant not provided [RCV003850906] Chr1:230710014 [GRCh38]
Chr1:230845760 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.105C>A (p.Val35=) single nucleotide variant not provided [RCV003550410] Chr1:230710719 [GRCh38]
Chr1:230846465 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.21C>T (p.Ser7=) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005014754]|not provided [RCV003557152] Chr1:230710803 [GRCh38]
Chr1:230846549 [GRCh37]
Chr1:1q42.2		 likely benign|uncertain significance
NM_001384479.1(AGT):c.255A>G (p.Lys85=) single nucleotide variant not provided [RCV003846451] Chr1:230710569 [GRCh38]
Chr1:230846315 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.1194C>T (p.Thr398=) single nucleotide variant not provided [RCV003550566] Chr1:230704241 [GRCh38]
Chr1:230839987 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.625C>T (p.His209Tyr) single nucleotide variant Inborn genetic diseases [RCV004387057] Chr1:230710199 [GRCh38]
Chr1:230845945 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.287T>C (p.Met96Thr) single nucleotide variant Inborn genetic diseases [RCV004387045] Chr1:230710537 [GRCh38]
Chr1:230846283 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.10G>A (p.Ala4Thr) single nucleotide variant Inborn genetic diseases [RCV004387051] Chr1:230710814 [GRCh38]
Chr1:230846560 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.668C>T (p.Pro223Leu) single nucleotide variant Inborn genetic diseases [RCV004622712] Chr1:230710156 [GRCh38]
Chr1:230845902 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.350G>A (p.Gly117Asp) single nucleotide variant Inborn genetic diseases [RCV004622751] Chr1:230710474 [GRCh38]
Chr1:230846220 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.738G>A (p.Met246Ile) single nucleotide variant Inborn genetic diseases [RCV004622762] Chr1:230710086 [GRCh38]
Chr1:230845832 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1138T>A (p.Ser380Thr) single nucleotide variant Inborn genetic diseases [RCV004622730] Chr1:230704297 [GRCh38]
Chr1:230840043 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.21C>A (p.Ser7Arg) single nucleotide variant Inborn genetic diseases [RCV004622740]|Renal tubular dysgenesis of genetic origin [RCV005015214] Chr1:230710803 [GRCh38]
Chr1:230846549 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.384G>C (p.Thr128=) single nucleotide variant AGT-related disorder [RCV004756747] Chr1:230710440 [GRCh38]
Chr1:230846186 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.1011G>T (p.Gln337His) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009899] Chr1:230706019 [GRCh38]
Chr1:230841765 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.937T>C (p.Trp313Arg) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009910] Chr1:230706093 [GRCh38]
Chr1:230841839 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.827A>T (p.Gln276Leu) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009925] Chr1:230709997 [GRCh38]
Chr1:230845743 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.413A>G (p.Tyr138Cys) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005010017] Chr1:230710411 [GRCh38]
Chr1:230846157 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1195G>T (p.Glu399Ter) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009861] Chr1:230704240 [GRCh38]
Chr1:230839986 [GRCh37]
Chr1:1q42.2		 likely pathogenic
NM_001384479.1(AGT):c.1096C>T (p.Arg366Trp) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009877] Chr1:230705934 [GRCh38]
Chr1:230841680 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.989G>A (p.Ser330Asn) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009903] Chr1:230706041 [GRCh38]
Chr1:230841787 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.990C>G (p.Ser330Arg) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009901] Chr1:230706040 [GRCh38]
Chr1:230841786 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.887G>A (p.Ser296Asn) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009914] Chr1:230706143 [GRCh38]
Chr1:230841889 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.845T>A (p.Phe282Tyr) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009919] Chr1:230706185 [GRCh38]
Chr1:230841931 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.754T>C (p.Trp252Arg) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009941] Chr1:230710070 [GRCh38]
Chr1:230845816 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1130T>A (p.Leu377Gln) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009867] Chr1:230704305 [GRCh38]
Chr1:230840051 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1065C>A (p.Asn355Lys) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009884] Chr1:230705965 [GRCh38]
Chr1:230841711 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.816C>G (p.Tyr272Ter) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009933] Chr1:230710008 [GRCh38]
Chr1:230845754 [GRCh37]
Chr1:1q42.2		 likely pathogenic
NM_001384479.1(AGT):c.536A>T (p.Gln179Leu) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009971] Chr1:230710288 [GRCh38]
Chr1:230846034 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.505C>T (p.His169Tyr) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009974] Chr1:230710319 [GRCh38]
Chr1:230846065 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.384G>A (p.Thr128=) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005010023] Chr1:230710440 [GRCh38]
Chr1:230846186 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.491C>A (p.Ser164Tyr) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009995] Chr1:230710333 [GRCh38]
Chr1:230846079 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1117C>G (p.Pro373Ala) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005009871] Chr1:230704318 [GRCh38]
Chr1:230840064 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1247T>C (p.Leu416Pro) single nucleotide variant Inborn genetic diseases [RCV004979676] Chr1:230703325 [GRCh38]
Chr1:230839071 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q42.13-43(chr1:228803269-243112182)x3 copy number gain not provided [RCV004819298] Chr1:228803269..243112182 [GRCh37]
Chr1:1q42.13-43		 pathogenic
NM_001384479.1(AGT):c.1099A>T (p.Thr367Ser) single nucleotide variant Inborn genetic diseases [RCV004979677] Chr1:230704336 [GRCh38]
Chr1:230840082 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.224T>C (p.Leu75Pro) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017764] Chr1:230710600 [GRCh38]
Chr1:230846346 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1318C>T (p.Pro440Ser) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015638] Chr1:230703254 [GRCh38]
Chr1:230839000 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1314C>A (p.Asn438Lys) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015640] Chr1:230703258 [GRCh38]
Chr1:230839004 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1286_1287del (p.Glu429fs) microsatellite Renal tubular dysgenesis of genetic origin [RCV005015644] Chr1:230703285..230703286 [GRCh38]
Chr1:230839031..230839032 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1210A>G (p.Lys404Glu) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015656] Chr1:230704225 [GRCh38]
Chr1:230839971 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1072A>G (p.Asn358Asp) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015674] Chr1:230705958 [GRCh38]
Chr1:230841704 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.836T>G (p.Met279Arg) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015699] Chr1:230706194 [GRCh38]
Chr1:230841940 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1033G>A (p.Asp345Asn) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015682] Chr1:230705997 [GRCh38]
Chr1:230841743 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.638C>T (p.Pro213Leu) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015717] Chr1:230710186 [GRCh38]
Chr1:230845932 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.638C>A (p.Pro213Gln) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015719] Chr1:230710186 [GRCh38]
Chr1:230845932 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.617C>T (p.Pro206Leu) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015721] Chr1:230710207 [GRCh38]
Chr1:230845953 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1243-16G>A single nucleotide variant not provided [RCV005063963] Chr1:230703345 [GRCh38]
Chr1:230839091 [GRCh37]
Chr1:1q42.2		 benign
NM_001384479.1(AGT):c.545T>C (p.Leu182Pro) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017694] Chr1:230710279 [GRCh38]
Chr1:230846025 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.146A>G (p.Asn49Ser) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017778] Chr1:230710678 [GRCh38]
Chr1:230846424 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.292G>A (p.Gly98Arg) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017744] Chr1:230710532 [GRCh38]
Chr1:230846278 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.279G>A (p.Arg93=) single nucleotide variant not provided [RCV005064262] Chr1:230710545 [GRCh38]
Chr1:230846291 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.502G>A (p.Ala168Thr) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017697] Chr1:230710322 [GRCh38]
Chr1:230846068 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.283G>A (p.Ala95Thr) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017747] Chr1:230710541 [GRCh38]
Chr1:230846287 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.242T>A (p.Leu81Gln) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017754] Chr1:230710582 [GRCh38]
Chr1:230846328 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.987G>C (p.Glu329Asp) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015687] Chr1:230706043 [GRCh38]
Chr1:230841789 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.962C>G (p.Ser321Trp) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015688] Chr1:230706068 [GRCh38]
Chr1:230841814 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.708T>A (p.Asp236Glu) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015708] Chr1:230710116 [GRCh38]
Chr1:230845862 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.698C>T (p.Thr233Ile) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015712] Chr1:230710126 [GRCh38]
Chr1:230845872 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.650G>A (p.Gly217Asp) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015714] Chr1:230710174 [GRCh38]
Chr1:230845920 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.439G>C (p.Asp147His) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017711] Chr1:230710385 [GRCh38]
Chr1:230846131 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.440A>G (p.Asp147Gly) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017708] Chr1:230710384 [GRCh38]
Chr1:230846130 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.477C>A (p.Asp159Glu) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017707] Chr1:230710347 [GRCh38]
Chr1:230846093 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1415C>A (p.Pro472Gln) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015630] Chr1:230703157 [GRCh38]
Chr1:230838903 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1264G>T (p.Glu422Ter) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005015653] Chr1:230703308 [GRCh38]
Chr1:230839054 [GRCh37]
Chr1:1q42.2		 likely pathogenic
NM_001384479.1(AGT):c.352G>A (p.Val118Met) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017741] Chr1:230710472 [GRCh38]
Chr1:230846218 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.320G>A (p.Arg107His) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017742] Chr1:230710504 [GRCh38]
Chr1:230846250 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.130C>G (p.Gln44Glu) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017784] Chr1:230710694 [GRCh38]
Chr1:230846440 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.-7G>T single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017825] Chr1:230710830 [GRCh38]
Chr1:230846576 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.493C>T (p.Arg165Trp) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017702] Chr1:230710331 [GRCh38]
Chr1:230846077 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.22C>A (p.Leu8Met) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017796] Chr1:230710802 [GRCh38]
Chr1:230846548 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1416G>A (p.Pro472=) single nucleotide variant not provided [RCV005181296] Chr1:230703156 [GRCh38]
Chr1:230838902 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.911_923del (p.Leu304fs) deletion not provided [RCV005122325] Chr1:230706107..230706119 [GRCh38]
Chr1:230841853..230841865 [GRCh37]
Chr1:1q42.2		 pathogenic
NM_001384479.1(AGT):c.1098-20A>T single nucleotide variant not provided [RCV005072981] Chr1:230704357 [GRCh38]
Chr1:230840103 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.1179C>A (p.Pro393=) single nucleotide variant not provided [RCV005120694] Chr1:230704256 [GRCh38]
Chr1:230840002 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.36C>A (p.Ile12=) single nucleotide variant not provided [RCV005150937] Chr1:230710788 [GRCh38]
Chr1:230846534 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.1319del (p.Pro440fs) deletion not provided [RCV005131585] Chr1:230703253 [GRCh38]
Chr1:230838999 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1113C>A (p.Thr371=) single nucleotide variant not provided [RCV005079779] Chr1:230704322 [GRCh38]
Chr1:230840068 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.726T>C (p.Ile242=) single nucleotide variant not provided [RCV005194399] Chr1:230710098 [GRCh38]
Chr1:230845844 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.1398G>C (p.Leu466=) single nucleotide variant not provided [RCV005138607] Chr1:230703174 [GRCh38]
Chr1:230838920 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.-23G>A single nucleotide variant not provided [RCV005148462] Chr1:230710846 [GRCh38]
Chr1:230846592 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.102C>T (p.Leu34=) single nucleotide variant not provided [RCV005200247] Chr1:230710722 [GRCh38]
Chr1:230846468 [GRCh37]
Chr1:1q42.2		 likely benign
NM_001384479.1(AGT):c.425T>G (p.Leu142Trp) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV005017713] Chr1:230710399 [GRCh38]
Chr1:230846145 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.338G>A (p.Ser113Asn) single nucleotide variant Inborn genetic diseases [RCV004387050] Chr1:230710486 [GRCh38]
Chr1:230846232 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_001384479.1(AGT):c.1098-15_1098-14delinsTT indel Renal tubular dysgenesis of genetic origin [RCV005015668] Chr1:230704351..230704352 [GRCh38]
Chr1:230840097..230840098 [GRCh37]
Chr1:1q42.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:263
Count of miRNA genes:246
Interacting mature miRNAs:255
Transcripts:ENST00000366667
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597429916GWAS1525990_Hprotein measurement QTL GWAS1525990 (human)3e-15protein measurement1230733279230733280Human
597432602GWAS1528676_Hprotein measurement QTL GWAS1528676 (human)3e-09protein measurement1230713422230713423Human
597401884GWAS1497958_Hsystolic blood pressure QTL GWAS1497958 (human)3e-30systolic blood pressuresystolic blood pressure (CMO:0000004)1230709026230709027Human
597033757GWAS1129831_Hsystolic blood pressure QTL GWAS1129831 (human)6e-26systolic blood pressuresystolic blood pressure (CMO:0000004)1230710048230710049Human
597365783GWAS1461857_Hpancreatic carcinoma QTL GWAS1461857 (human)0.0000004pancreatic carcinoma1230727252230727253Human
597431953GWAS1528027_Hprotein measurement QTL GWAS1528027 (human)4e-17protein measurement1230733279230733280Human
597512467GWAS1608541_Himmunoglobulin lambda-like polypeptide 1 measurement QTL GWAS1608541 (human)1e-14immunoglobulin lambda-like polypeptide 1 measurement1230708564230708565Human
407000274GWAS649250_Hdiastolic blood pressure QTL GWAS649250 (human)2e-11diastolic blood pressurediastolic blood pressure (CMO:0000005)1230712956230712957Human
597027461GWAS1123535_Hblood protein measurement QTL GWAS1123535 (human)2e-16blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1230713736230713737Human
597385097GWAS1481171_Hcoronary artery disease QTL GWAS1481171 (human)2e-08Beta blocking agent use measurement1230715682230715683Human
596967054GWAS1086573_Hdiastolic blood pressure QTL GWAS1086573 (human)2e-24diastolic blood pressure1230708564230708565Human
597394951GWAS1491025_HAgents acting on the renin-angiotensin system use measurement QTL GWAS1491025 (human)3e-10Agents acting on the renin-angiotensin system use measurement1230708527230708528Human
597418374GWAS1514448_HAlzheimer disease, memory impairment QTL GWAS1514448 (human)0.0000006Alzheimer disease, memory impairment1230716523230716524Human
597478786GWAS1574860_Hblood protein measurement QTL GWAS1574860 (human)4e-11blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1230708860230708861Human
597478787GWAS1574861_Hblood protein measurement QTL GWAS1574861 (human)2e-28blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1230707968230707969Human
597171258GWAS1267332_Hangiotensinogen measurement QTL GWAS1267332 (human)3e-12angiotensinogen measurement1230711940230711941Human
597511359GWAS1607433_Hangiotensinogen measurement QTL GWAS1607433 (human)7e-13angiotensinogen measurement1230742815230742816Human
597401400GWAS1497474_Hangiotensinogen measurement QTL GWAS1497474 (human)6e-33angiotensinogen measurement1230729374230729375Human
597431354GWAS1527428_Hprotein measurement QTL GWAS1527428 (human)2e-130protein measurement1230710231230710232Human
597510202GWAS1606276_HBeta blocking agent use measurement QTL GWAS1606276 (human)8e-10Beta blocking agent use measurement1230715790230715791Human
597476022GWAS1572096_Hblood protein measurement QTL GWAS1572096 (human)3e-39blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1230709026230709027Human
597134909GWAS1230983_Hdiastolic blood pressure QTL GWAS1230983 (human)7e-46diastolic blood pressurediastolic blood pressure (CMO:0000005)1230710048230710049Human
597511602GWAS1607676_HAgents acting on the renin-angiotensin system use measurement QTL GWAS1607676 (human)9e-10Agents acting on the renin-angiotensin system use measurement1230708564230708565Human
597591089GWAS1647949_Hessential hypertension QTL GWAS1647949 (human)1e-23essential hypertension1230715790230715791Human
597452973GWAS1549047_Hdiastolic blood pressure QTL GWAS1549047 (human)7e-38diastolic blood pressurediastolic blood pressure (CMO:0000005)1230710048230710049Human
407133047GWAS782023_Hdiastolic blood pressure QTL GWAS782023 (human)1e-14diastolic blood pressurediastolic blood pressure (CMO:0000005)1230713613230713614Human
597589802GWAS1646662_Hhypertension QTL GWAS1646662 (human)5e-23hypertension1230715790230715791Human
597066147GWAS1162221_Hdiastolic blood pressure QTL GWAS1162221 (human)0.0000009diastolic blood pressurediastolic blood pressure (CMO:0000005)1230712956230712957Human
597271203GWAS1367277_Hdiastolic blood pressure QTL GWAS1367277 (human)7e-25diastolic blood pressurediastolic blood pressure (CMO:0000005)1230710048230710049Human
597019311GWAS1115385_Hsmoking status measurement, systolic blood pressure QTL GWAS1115385 (human)3e-10smoking status measurement, systolic blood pressuresystolic blood pressure (CMO:0000004)1230712956230712957Human
597499687GWAS1595761_Hangiotensinogen measurement QTL GWAS1595761 (human)3e-75angiotensinogen measurement1230715298230715299Human
597202086GWAS1298160_Hsystolic blood pressure QTL GWAS1298160 (human)8e-41systolic blood pressuresystolic blood pressure (CMO:0000004)1230710048230710049Human
597172391GWAS1268465_Hprotein measurement QTL GWAS1268465 (human)1e-34protein measurement1230710231230710232Human
597431644GWAS1527718_Hprotein measurement QTL GWAS1527718 (human)2e-78protein measurement1230710231230710232Human
597036630GWAS1132704_Hdiastolic blood pressure, alcohol drinking QTL GWAS1132704 (human)9e-13diastolic blood pressure, alcohol drinkingdiastolic blood pressure (CMO:0000005)1230712956230712957Human
597595870GWAS1652730_Hdiastolic blood pressure QTL GWAS1652730 (human)5e-20diastolic blood pressurediastolic blood pressure (CMO:0000005)1230715682230715683Human
597101270GWAS1197344_Hmajor depressive episode QTL GWAS1197344 (human)0.000004major depressive episode1230711527230711528Human
597608026GWAS1664886_Hsystolic blood pressure QTL GWAS1664886 (human)3e-17systolic blood pressuresystolic blood pressure (CMO:0000004)1230715790230715791Human
597462745GWAS1558819_Hsystolic blood pressure, alcohol drinking QTL GWAS1558819 (human)2e-08systolic blood pressure, alcohol drinkingsystolic blood pressure (CMO:0000004)1230729374230729375Human
597460186GWAS1556260_Hdiastolic blood pressure, alcohol drinking QTL GWAS1556260 (human)1e-11diastolic blood pressure, alcohol drinkingdiastolic blood pressure (CMO:0000005)1230729374230729375Human
597266654GWAS1362728_Hsystolic blood pressure QTL GWAS1362728 (human)3e-19systolic blood pressuresystolic blood pressure (CMO:0000004)1230710048230710049Human
597424467GWAS1520541_Hsystolic blood pressure QTL GWAS1520541 (human)5e-33systolic blood pressuresystolic blood pressure (CMO:0000004)1230710048230710049Human
407133324GWAS782300_Hsystolic blood pressure QTL GWAS782300 (human)1e-12systolic blood pressuresystolic blood pressure (CMO:0000004)1230713613230713614Human
597073987GWAS1170061_Hcoronary artery disease QTL GWAS1170061 (human)2e-08coronary artery disease1230710048230710049Human
597486918GWAS1582992_Hangiotensinogen measurement QTL GWAS1582992 (human)2e-11angiotensinogen measurement1230742815230742816Human
597607618GWAS1664478_Hsystolic blood pressure QTL GWAS1664478 (human)2e-24systolic blood pressuresystolic blood pressure (CMO:0000004)1230705763230705764Human
597526209GWAS1622283_Hprotein measurement QTL GWAS1622283 (human)2e-12protein measurement1230708527230708528Human
596979272GWAS1098791_Hsystolic blood pressure QTL GWAS1098791 (human)2e-25systolic blood pressure1230708527230708528Human
597492928GWAS1589002_HAntihypertensive use measurement QTL GWAS1589002 (human)8e-19Antihypertensive use measurement1230737742230737743Human
597402181GWAS1498255_Hcortex volume change measurement, age at assessment QTL GWAS1498255 (human)0.0000002cortex volume change measurement, age at assessment1230708450230708451Human
597455426GWAS1551500_Hdiastolic blood pressure QTL GWAS1551500 (human)4e-14diastolic blood pressurediastolic blood pressure (CMO:0000005)1230708527230708528Human
597459778GWAS1555852_Hhypertension QTL GWAS1555852 (human)2e-10hypertension1230709026230709027Human
597432002GWAS1528076_Hprotein measurement QTL GWAS1528076 (human)4e-24protein measurement1230733279230733280Human
597433342GWAS1529416_Hprotein measurement QTL GWAS1529416 (human)3e-12protein measurement1230710231230710232Human
597586938GWAS1643798_Hdiastolic blood pressure change measurement QTL GWAS1643798 (human)1e-11diastolic blood pressure change measurementchange in diastolic blood pressure (CMO:0001016)1230705763230705764Human
597170300GWAS1266374_Hprotein measurement QTL GWAS1266374 (human)1e-13protein measurement1230711816230711817Human
596952177GWAS1071696_Hhypertension QTL GWAS1071696 (human)2e-10hypertension1230709026230709027Human
597433337GWAS1529411_Hprotein measurement QTL GWAS1529411 (human)2e-15protein measurement1230733279230733280Human
597400061GWAS1496135_Hcortex volume change measurement, age at assessment QTL GWAS1496135 (human)0.0000006cortex volume change measurement, age at assessment1230708450230708451Human
597486708GWAS1582782_Hmean arterial pressure QTL GWAS1582782 (human)2e-16mean arterial pressuremean arterial blood pressure (CMO:0000009)1230709026230709027Human
597019517GWAS1115591_Hsmoking status measurement, diastolic blood pressure QTL GWAS1115591 (human)2e-14smoking status measurement, diastolic blood pressurediastolic blood pressure (CMO:0000005)1230712956230712957Human
597075199GWAS1171273_Hmean arterial pressure QTL GWAS1171273 (human)4e-12mean arterial pressuremean arterial blood pressure (CMO:0000009)1230710048230710049Human
597396464GWAS1492538_Hdiastolic blood pressure QTL GWAS1492538 (human)2e-24diastolic blood pressurediastolic blood pressure (CMO:0000005)1230708564230708565Human
597399412GWAS1495486_Hsystolic blood pressure QTL GWAS1495486 (human)2e-25systolic blood pressuresystolic blood pressure (CMO:0000004)1230708527230708528Human
407001389GWAS650365_Hsystolic blood pressure QTL GWAS650365 (human)1e-09systolic blood pressuresystolic blood pressure (CMO:0000004)1230712956230712957Human
597134948GWAS1231022_Hpulse pressure measurement QTL GWAS1231022 (human)1e-11pulse pressure measurementpulse pressure (CMO:0000292)1230710048230710049Human
597432297GWAS1528371_Hprotein measurement QTL GWAS1528371 (human)2e-34protein measurement1230733279230733280Human
597408487GWAS1504561_Hsystolic blood pressure QTL GWAS1504561 (human)6e-14systolic blood pressuresystolic blood pressure (CMO:0000004)1230709026230709027Human
597581923GWAS1638783_Hhypertension QTL GWAS1638783 (human)7e-13hypertension1230715682230715683Human
597619296GWAS1676156_Hessential hypertension QTL GWAS1676156 (human)3e-11essential hypertension1230715790230715791Human

Markers in Region
RH91381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,847,215 - 230,847,400UniSTSGRCh37
Build 361228,913,838 - 228,914,023RGDNCBI36
Celera1204,113,237 - 204,113,422RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,332,156 - 201,332,341UniSTS
GeneMap99-GB4 RH Map1737.43UniSTS
RH76317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,847,347 - 230,847,557UniSTSGRCh37
Build 361228,913,970 - 228,914,180RGDNCBI36
Celera1204,113,369 - 204,113,579RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,332,288 - 201,332,498UniSTS
G44347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,845,701 - 230,845,909UniSTSGRCh37
Build 361228,912,324 - 228,912,532RGDNCBI36
Celera1204,111,723 - 204,111,931RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,330,642 - 201,330,850UniSTS
RH121565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,838,108 - 230,838,379UniSTSGRCh37
Build 361228,904,731 - 228,905,002RGDNCBI36
Celera1204,104,130 - 204,104,401RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,323,048 - 201,323,319UniSTS
TNG Radiation Hybrid Map1116278.0UniSTS
PMC310924P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,849,824 - 230,849,965UniSTSGRCh37
Build 361228,916,447 - 228,916,588RGDNCBI36
Celera1204,115,846 - 204,115,987RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,334,765 - 201,334,906UniSTS
G34823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,838,382 - 230,838,484UniSTSGRCh37
Build 361228,905,005 - 228,905,107RGDNCBI36
Celera1204,104,404 - 204,104,506RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,323,322 - 201,323,424UniSTS
RH11650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,838,346 - 230,838,567UniSTSGRCh37
Build 361228,904,969 - 228,905,190RGDNCBI36
Celera1204,104,368 - 204,104,589RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,323,286 - 201,323,507UniSTS
GeneMap99-GB4 RH Map1737.43UniSTS
NCBI RH Map12036.5UniSTS
STS-H64380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,837,945 - 230,838,177UniSTSGRCh37
Build 361228,904,568 - 228,904,800RGDNCBI36
Celera1204,103,967 - 204,104,199RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,322,885 - 201,323,117UniSTS
GeneMap99-GB4 RH Map1736.11UniSTS
NCBI RH Map12035.0UniSTS
WI-8965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,838,464 - 230,838,587UniSTSGRCh37
Build 361228,905,087 - 228,905,210RGDNCBI36
Celera1204,104,486 - 204,104,609RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,323,404 - 201,323,527UniSTS
Whitehead-YAC Contig Map1 UniSTS
RH11822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,838,567 - 230,838,712UniSTSGRCh37
Build 361228,905,190 - 228,905,335RGDNCBI36
Celera1204,104,589 - 204,104,734RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,323,507 - 201,323,652UniSTS
GeneMap99-GB4 RH Map1737.43UniSTS
NCBI RH Map12032.6UniSTS
AGT_4206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,838,215 - 230,839,023UniSTSGRCh37
Build 361228,904,838 - 228,905,646RGDNCBI36
Celera1204,104,237 - 204,105,045RGD
HuRef1201,323,155 - 201,323,963UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2396 2788 2226 4908 1715 2285 3 622 1319 464 2240 6634 5830 31 3701 833 1686 1554 166

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB222866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF424741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU128714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW128887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY436323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF338744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC412932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF646866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF646867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF646868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF646869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF646870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF646871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF646872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU326304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU332836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ287930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M69110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  T97863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W01494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000366667   ⟹   ENSP00000355627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,702,523 - 230,714,122 (-)Ensembl
Ensembl Acc Id: ENST00000657140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,692,533 - 230,696,888 (-)Ensembl
Ensembl Acc Id: ENST00000679684   ⟹   ENSP00000505981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,703,767 - 230,714,566 (-)Ensembl
Ensembl Acc Id: ENST00000679738   ⟹   ENSP00000505063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,692,511 - 230,714,645 (-)Ensembl
Ensembl Acc Id: ENST00000679802   ⟹   ENSP00000505184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,692,511 - 230,714,566 (-)Ensembl
Ensembl Acc Id: ENST00000679854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,692,511 - 230,714,566 (-)Ensembl
Ensembl Acc Id: ENST00000679957   ⟹   ENSP00000506646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,703,141 - 230,714,566 (-)Ensembl
Ensembl Acc Id: ENST00000680041   ⟹   ENSP00000504866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,702,155 - 230,714,145 (-)Ensembl
Ensembl Acc Id: ENST00000680783   ⟹   ENSP00000506329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,690,776 - 230,714,566 (-)Ensembl
Ensembl Acc Id: ENST00000681269   ⟹   ENSP00000505985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,702,523 - 230,745,576 (-)Ensembl
Ensembl Acc Id: ENST00000681347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,692,511 - 230,714,566 (-)Ensembl
Ensembl Acc Id: ENST00000681514   ⟹   ENSP00000505963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,702,155 - 230,714,122 (-)Ensembl
Ensembl Acc Id: ENST00000681772   ⟹   ENSP00000505829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,692,511 - 230,714,566 (-)Ensembl
RefSeq Acc Id: NM_001382817   ⟹   NP_001369746
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,702,523 - 230,745,583 (-)NCBI
T2T-CHM13v2.01230,083,077 - 230,126,137 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001384479   ⟹   NP_001371408
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,702,523 - 230,714,122 (-)NCBI
T2T-CHM13v2.01230,083,077 - 230,094,676 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000020 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369746 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371408 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51679 (Get FASTA)   NCBI Sequence Viewer  
  AAA51731 (Get FASTA)   NCBI Sequence Viewer  
  AAA52282 (Get FASTA)   NCBI Sequence Viewer  
  AAD14287 (Get FASTA)   NCBI Sequence Viewer  
  AAD14288 (Get FASTA)   NCBI Sequence Viewer  
  AAH11519 (Get FASTA)   NCBI Sequence Viewer  
  AAP35497 (Get FASTA)   NCBI Sequence Viewer  
  AAR03501 (Get FASTA)   NCBI Sequence Viewer  
  ABS30408 (Get FASTA)   NCBI Sequence Viewer  
  ABS30409 (Get FASTA)   NCBI Sequence Viewer  
  ABS30410 (Get FASTA)   NCBI Sequence Viewer  
  ABS30411 (Get FASTA)   NCBI Sequence Viewer  
  ABS30412 (Get FASTA)   NCBI Sequence Viewer  
  ABS30413 (Get FASTA)   NCBI Sequence Viewer  
  ABS30414 (Get FASTA)   NCBI Sequence Viewer  
  ABY87525 (Get FASTA)   NCBI Sequence Viewer  
  ACA05910 (Get FASTA)   NCBI Sequence Viewer  
  BAD93006 (Get FASTA)   NCBI Sequence Viewer  
  BAD96518 (Get FASTA)   NCBI Sequence Viewer  
  BAD96535 (Get FASTA)   NCBI Sequence Viewer  
  BAG35218 (Get FASTA)   NCBI Sequence Viewer  
  BAG56991 (Get FASTA)   NCBI Sequence Viewer  
  BAG64725 (Get FASTA)   NCBI Sequence Viewer  
  BAX24569 (Get FASTA)   NCBI Sequence Viewer  
  CAA33385 (Get FASTA)   NCBI Sequence Viewer  
  EAW69918 (Get FASTA)   NCBI Sequence Viewer  
  EAW69919 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000355627
  ENSP00000355627.5
  ENSP00000504866.1
  ENSP00000505063.1
  ENSP00000505963.1
  ENSP00000505985
  ENSP00000505985.1
GenBank Protein P01019 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001369746   ⟸   NM_001382817
- Peptide Label: precursor
- UniProtKB: Q16359 (UniProtKB/Swiss-Prot),   Q16358 (UniProtKB/Swiss-Prot),   P01019 (UniProtKB/Swiss-Prot),   Q96F91 (UniProtKB/Swiss-Prot),   A0A7P0T8D1 (UniProtKB/TrEMBL),   A0A7P0TBH1 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000355627   ⟸   ENST00000366667
RefSeq Acc Id: NP_001371408   ⟸   NM_001384479
- Peptide Label: precursor
- UniProtKB: Q96F91 (UniProtKB/Swiss-Prot),   Q16359 (UniProtKB/Swiss-Prot),   Q16358 (UniProtKB/Swiss-Prot),   P01019 (UniProtKB/Swiss-Prot),   A0A7P0T8D1 (UniProtKB/TrEMBL),   A0A7P0TBH1 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000505981   ⟸   ENST00000679684
Ensembl Acc Id: ENSP00000505184   ⟸   ENST00000679802
Ensembl Acc Id: ENSP00000504866   ⟸   ENST00000680041
Ensembl Acc Id: ENSP00000505829   ⟸   ENST00000681772
Ensembl Acc Id: ENSP00000505063   ⟸   ENST00000679738
Ensembl Acc Id: ENSP00000505985   ⟸   ENST00000681269
Ensembl Acc Id: ENSP00000505963   ⟸   ENST00000681514
Ensembl Acc Id: ENSP00000506329   ⟸   ENST00000680783
Ensembl Acc Id: ENSP00000506646   ⟸   ENST00000679957
Protein Domains
SERPIN

Protein Structures
Name Modeler Protein Id AA Range Protein Structure Video
AF-P01019-F1-model_v2 AlphaFold P01019 1-476 view protein structure  
AGT - Oxidized pdb 2x0b P01019 34-485 view protein structure view video
AGT - Reduced pdb 2x0b P01019 34-485 view protein structure view video
AGT - Renin pdb 2x0b P01019 34-485 view protein structure view video

Promoters
RGD ID:6850070
Promoter ID:EP36006
Type:multiple initiation site
Name:HS_AGT_3
Description:Angiotensinogen.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 207; Mammalian angiotensin.
Alternative Promoters:alternative promoter #3 of 3; 5' exon 1; site 3; major promoter.; see alsoEP72001  EP72002  
Tissues & Cell Lines:liver
Experiment Methods:Sequencing of a full-length cDNA; NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361228,916,490 - 228,916,550EPD
RGD ID:6850068
Promoter ID:EP72002
Type:initiation region
Name:HS_AGT_2
Description:Angiotensinogen.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 3; 5' exon 1; site 2.; see alsoEP72001  EP36006  
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361228,916,587 - 228,916,647EPD
RGD ID:6850066
Promoter ID:EP72001
Type:initiation region
Name:HS_AGT_1
Description:Angiotensinogen.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 3; 5' exon 1; site 1.; see alsoEP72002  EP36006  
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361228,916,676 - 228,916,736EPD
RGD ID:6859242
Promoter ID:EPDNEW_H2785
Type:multiple initiation site
Name:AGT_1
Description:angiotensinogen
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,714,121 - 230,714,181EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:333 AgrOrtholog
COSMIC AGT COSMIC
Ensembl Genes ENSG00000135744 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366667 ENTREZGENE
  ENST00000366667.6 UniProtKB/Swiss-Prot
  ENST00000679738.1 UniProtKB/Swiss-Prot
  ENST00000680041.1 UniProtKB/Swiss-Prot
  ENST00000681269 ENTREZGENE
  ENST00000681269.1 UniProtKB/Swiss-Prot
  ENST00000681514.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.39.10 UniProtKB/Swiss-Prot
  3.30.497.10 UniProtKB/Swiss-Prot
GTEx ENSG00000135744 GTEx
HGNC ID HGNC:333 ENTREZGENE
Human Proteome Map AGT Human Proteome Map
InterPro Angiotensinogen UniProtKB/Swiss-Prot
  Angiotensinogen_serpin UniProtKB/Swiss-Prot
  Serpin_CS UniProtKB/Swiss-Prot
  Serpin_dom UniProtKB/Swiss-Prot
  Serpin_fam UniProtKB/Swiss-Prot
  Serpin_sf UniProtKB/Swiss-Prot
  Serpin_sf_1 UniProtKB/Swiss-Prot
  Serpin_sf_2 UniProtKB/Swiss-Prot
NCBI Gene 183 ENTREZGENE
OMIM 106150 OMIM
PANTHER ANGIOTENSINOGEN UniProtKB/Swiss-Prot
  PTHR11461 UniProtKB/Swiss-Prot
Pfam Serpin UniProtKB/Swiss-Prot
PharmGKB AGT RGD, PharmGKB
PRINTS ANGIOTENSNGN UniProtKB/Swiss-Prot
PROSITE SERPIN UniProtKB/Swiss-Prot
SMART SERPIN UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56574 UniProtKB/Swiss-Prot
UniProt A0A7P0T8D1 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0T9S6_HUMAN UniProtKB/TrEMBL
  A0A7P0TA52_HUMAN UniProtKB/TrEMBL
  A0A7P0TAP4_HUMAN UniProtKB/TrEMBL
  A0A7P0TBH1 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0Z441_HUMAN UniProtKB/TrEMBL
  A7L3A1_HUMAN UniProtKB/TrEMBL
  A7L3A2_HUMAN UniProtKB/TrEMBL
  A7L3A3_HUMAN UniProtKB/TrEMBL
  A7L3A4_HUMAN UniProtKB/TrEMBL
  A7L3A5_HUMAN UniProtKB/TrEMBL
  ANGT_HUMAN UniProtKB/Swiss-Prot
  B0ZBE2_HUMAN UniProtKB/TrEMBL
  B2R5S1_HUMAN UniProtKB/TrEMBL
  P01019 ENTREZGENE
  Q16358 ENTREZGENE
  Q16359 ENTREZGENE
  Q53YY1_HUMAN UniProtKB/TrEMBL
  Q96F91 ENTREZGENE
UniProt Secondary Q16358 UniProtKB/Swiss-Prot
  Q16359 UniProtKB/Swiss-Prot
  Q96F91 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 AGT  angiotensinogen  AGT  angiotensinogen (serpin peptidase inhibitor, clade A, member 8)  Symbol and/or name change 5135510 APPROVED