AGTR1 (angiotensin II receptor type 1) - Rat Genome Database

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Gene: AGTR1 (angiotensin II receptor type 1) Homo sapiens
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Symbol: AGTR1
Name: angiotensin II receptor type 1
RGD ID: 68977
HGNC Page HGNC:336
Description: Enables angiotensin receptor activity; bradykinin receptor binding activity; and protein heterodimerization activity. Involved in several processes, including blood vessel diameter maintenance; intracellular signaling cassette; and positive regulation of CoA-transferase activity. Located in plasma membrane. Implicated in several diseases, including COVID-19; artery disease (multiple); chronic kidney disease; neurodegenerative disease (multiple); and sarcoidosis. Biomarker of several diseases, including IgA glomerulonephritis; atrial fibrillation; intermediate coronary syndrome; neurodegenerative disease (multiple); and vesicoureteral reflux.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AG2S; AGTR1A; AGTR1B; angiotensin II receptor, type 1; angiotensin II type-1 receptor; angiotensin receptor 1; angiotensin receptor 1B; AT1; AT1 receptor; AT1AR; AT1B; AT1BR; AT1R; AT2R1; AT2R1A; AT2R1B; ATR1; HAT1R; type-1 angiotensin II receptor; type-1B angiotensin II receptor
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
Is Marker For: QTLs:   BP24_H   BP36_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383148,697,903 - 148,743,003 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3148,697,784 - 148,743,008 (+)EnsemblGRCh38hg38GRCh38
GRCh373148,415,690 - 148,460,790 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363149,898,348 - 149,943,480 (+)NCBINCBI36Build 36hg18NCBI36
Build 343149,940,284 - 149,943,486NCBI
Celera3146,826,000 - 146,871,131 (+)NCBICelera
Cytogenetic Map3q24NCBI
HuRef3145,788,031 - 145,833,163 (+)NCBIHuRef
CHM1_13148,378,782 - 148,423,918 (+)NCBICHM1_1
T2T-CHM13v2.03151,448,936 - 151,494,033 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
abdominal aortic aneurysm  (EXP,ISO)
aceruloplasminemia  (IAGP)
AIDS-Associated Nephropathy  (ISO)
Alveolar Bone Loss  (ISO)
Alzheimer's disease  (IEP,IMP)
anti-basement membrane glomerulonephritis  (ISO)
asthma  (ISO)
atrial fibrillation  (IEP)
breast cancer  (IAGP)
breast lobular carcinoma  (ISO)
Cardiac Arrhythmias  (IAGP)
Cardiomegaly  (IMP,ISO)
carotid artery disease  (IAGP)
Carotid Artery Injuries  (ISO)
cerebrovascular disease  (IAGP)
Chronic Intermittent Hypoxia  (ISO)
chronic kidney disease  (IAGP,ISO)
congestive heart failure  (EXP,ISO)
corneal neovascularization  (ISO)
coronary artery disease  (IAGP,IEA)
Coronary Disease  (IAGP)
COVID-19  (IMP)
Diabetic Nephropathies  (IAGP,ISO)
diabetic retinopathy  (EXP)
Diaphragmatic Hernia  (ISO)
diffuse cystic renal dysplasia  (IAGP)
dilated cardiomyopathy  (ISO)
Ductal Carcinoma  (ISO)
Endotoxemia  (ISO)
essential hypertension  (EXP,IAGP,IMP)
Experimental Liver Cirrhosis  (ISO)
Experimental Mammary Neoplasms  (ISO)
Experimental Radiation Injuries  (ISO)
Fetal Growth Retardation  (ISO)
Fibrosis  (ISO)
focal segmental glomerulosclerosis  (ISO)
Friedreich ataxia  (IAGP)
genetic disease  (IAGP)
glomerulosclerosis  (ISO)
glucose intolerance  (ISO)
glycogen storage disease XV  (IAGP)
Huntington's disease  (IEP)
hyperinsulinism  (ISO)
hypertension  (EXP,IAGP,IEA,ISO)
Hypertensive Nephropathy  (ISO)
IgA glomerulonephritis  (IEP)
Inflammation  (ISO)
intermediate coronary syndrome  (IEP)
kidney disease  (EXP,ISO)
Left Ventricular Hypertrophy  (IAGP)
limb ischemia  (ISO)
lung disease  (ISO)
Metabolic Syndrome  (IAGP)
myocardial infarction  (IAGP,IEA,ISO)
Myocardial Reperfusion Injury  (ISO)
Neoplasm Metastasis  (EXP)
nephritis  (ISO)
pancreatic ductal carcinoma  (EXP)
Parkinson's disease  (IEP)
patent ductus arteriosus  (EXP)
Pituitary Neoplasms  (EXP)
placental insufficiency  (ISO)
Postoperative Cognitive Dysfunction  (ISO)
Prenatal Exposure Delayed Effects  (ISO)
proteinuria  (EXP,ISO)
pulmonary fibrosis  (ISO)
pulmonary hypertension  (IAGP)
renal cell carcinoma  (IEP)
renal hypertension  (ISO)
Renal Tubular Dysgenesis  (EXP,IAGP)
renovascular hypertension  (ISO)
sarcoidosis  (IAGP)
Spontaneous Abortions  (EXP)
Vascular System Injuries  (ISO)
Ventricular Remodeling  (ISO)
vesicoureteral reflux  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
(R)-lipoic acid  (ISO)
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (EXP,ISO)
1-O-palmitoyl-2-O-(5-oxovaleryl)-sn-glycero-3-phosphocholine  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,5-dihydroxybenzoic acid  (ISO)
2-acetyl-1-alkyl-sn-glycero-3-phosphocholine  (EXP)
2-butoxyethanol  (ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-(5,6,7,8-tetrahydroimidazo[1,5-a]pyridin-5-yl)benzonitrile  (ISO)
4-hydroxy-TEMPO  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
8-Br-cAMP  (EXP)
Ac-Ser-Asp-Lys-Pro-OH  (ISO)
acetylsalicylic acid  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP,ISO)
aldosterone  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
AM6545  (ISO)
amiodarone  (ISO)
amlodipine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
asbestos  (EXP)
aspartame  (EXP)
ATP  (ISO)
benazepril  (EXP,ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-hexachlorocyclohexane  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
caffeine  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
candesartan  (EXP,ISO)
Candesartan cilexetil  (ISO)
capsaicin  (ISO)
captopril  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
chromium(6+)  (EXP)
cilazapril monohydrate  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
corticosterone  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP,ISO)
daunorubicin  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (EXP)
diisononyl phthalate  (ISO)
diminazene diaceturate  (EXP)
dioxygen  (ISO)
dipentyl phthalate  (ISO)
diuron  (ISO)
doxorubicin  (ISO)
EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor  (ISO)
edaravone  (ISO)
ellagic acid  (ISO)
enalapril  (ISO)
enalaprilat dihydrate  (EXP)
endosulfan  (ISO)
esculetin  (ISO)
estriol  (EXP)
ethanol  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP,ISO)
fructose  (EXP,ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
glucose  (EXP,ISO)
glycochenodeoxycholic acid  (ISO)
glyoxylic acid  (ISO)
goralatide  (ISO)
Heptachlor epoxide  (ISO)
hexachlorobenzene  (ISO)
hydrochlorothiazide  (ISO)
hydrogen peroxide  (EXP,ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
inulin  (ISO)
irbesartan  (EXP,ISO)
isoprenaline  (ISO)
isotretinoin  (ISO)
L-ethionine  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
lithium chloride  (ISO)
losartan  (EXP,ISO)
Magnolol  (ISO)
mangiferin  (ISO)
mechlorethamine  (ISO)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
mevinphos  (ISO)
mifepristone  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monocrotaline  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
Nandrolone decanoate  (ISO)
nerolidol  (ISO)
nickel atom  (EXP)
nicotinamide  (ISO)
nicotine  (ISO)
nitrendipine  (EXP)
nitric oxide  (ISO)
nitrofen  (ISO)
olmesartan  (EXP)
omeprazole  (ISO)
ouabain  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
PCB138  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
perindopril  (EXP,ISO)
phenylarsine oxide  (ISO)
phosphane  (ISO)
picrotoxin  (ISO)
pioglitazone  (ISO)
pirfenidone  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregabalin  (ISO)
propanal  (EXP)
Ptaquiloside  (ISO)
quercetin  (EXP,ISO)
ramipril  (ISO)
reactive oxygen species  (ISO)
rebaudioside A  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
silicon dioxide  (EXP,ISO)
simvastatin  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
spironolactone  (ISO)
steviol  (EXP)
stevioside  (EXP)
streptozocin  (ISO)
sucrose  (ISO)
superoxide  (ISO)
telmisartan  (EXP,ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
tremolite asbestos  (ISO)
triadimefon  (ISO)
tributylstannane  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
triphenylstannane  (ISO)
troglitazone  (ISO)
tryptophan  (ISO)
valproic acid  (EXP,ISO)
valsartan  (EXP,ISO)
vinclozolin  (ISO)
warfarin  (EXP)
zinc oxide  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of Janus kinase activity  (ISO)
angiotensin-activated signaling pathway  (IDA,IEA)
blood vessel development  (ISO)
blood vessel diameter maintenance  (IC)
brain renin-angiotensin system  (ISO)
calcium-mediated signaling  (IDA)
cell chemotaxis  (IDA)
cellular response to dexamethasone stimulus  (ISO)
dopamine biosynthetic process  (ISO)
drinking behavior  (ISO)
G protein-coupled receptor signaling pathway  (IBA,IDA,IEA,ISO)
gene expression  (ISO)
heart development  (ISO)
inflammatory response  (IBA,ISO)
kidney development  (IMP,ISO)
low-density lipoprotein particle remodeling  (NAS)
maintenance of blood vessel diameter homeostasis by renin-angiotensin  (IC,IDA)
negative regulation of neuron apoptotic process  (ISO)
negative regulation of smooth muscle cell apoptotic process  (ISO)
neuron apoptotic process  (ISO)
phospholipase C-activating angiotensin-activated signaling pathway  (IDA,IEA)
phospholipase C-activating G protein-coupled receptor signaling pathway  (IDA,ISO,NAS,TAS)
positive regulation of angiogenesis  (ISO)
positive regulation of blood pressure  (ISO)
positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis  (IGI)
positive regulation of branching involved in ureteric bud morphogenesis  (ISO)
positive regulation of calcium ion import across plasma membrane  (ISO)
positive regulation of cell population proliferation  (ISO)
positive regulation of CoA-transferase activity  (IMP)
positive regulation of cytokine production  (ISO)
positive regulation of cytosolic calcium ion concentration  (IBA,IDA)
positive regulation of inflammatory response  (TAS)
positive regulation of macrophage derived foam cell differentiation  (IMP)
positive regulation of phospholipase A2 activity  (IMP)
positive regulation of protein metabolic process  (IMP)
positive regulation of reactive oxygen species metabolic process  (TAS)
positive regulation of receptor recycling  (ISO)
positive regulation of superoxide anion generation  (ISO)
positive regulation of vascular associated smooth muscle cell proliferation  (ISO)
regulation of blood pressure  (ISO)
regulation of cell growth  (NAS)
regulation of cell population proliferation  (NAS)
regulation of inflammatory response  (IC)
regulation of pH  (ISO)
regulation of renal output by angiotensin  (ISO)
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  (IC)
regulation of vascular associated smooth muscle cell apoptotic process  (ISO)
regulation of vasoconstriction  (IC,IDA,IEA,NAS)
renin secretion into blood stream  (ISO)
renin-angiotensin regulation of aldosterone production  (ISO,NAS)
response to activity  (ISO)
response to angiotensin  (ISO)
response to corticosterone  (ISO)
response to estrogen  (ISO)
response to salt stress  (ISO)
Rho protein signal transduction  (IDA)
vascular associated smooth muscle cell proliferation  (ISO)
vasoconstriction  (ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway   (EXP)
angiotensin II signaling pathway   (ISO)
angiotensin II signaling pathway via AT1 receptor  (ISO,TAS)
angiotensin III signaling pathway  (ISO)
atenolol pharmacodynamics pathway  (EXP)
benazepril pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
candesartan pharmacodynamics pathway  (EXP)
captopril pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
cilazapril pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
enalapril pharmacodynamics pathway  (EXP)
eprosartan pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
forasartsn pharmacodynamics pathway  (EXP)
fosinopril pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
G protein mediated signaling pathway via Galpha12/Galpha13 family  (ISO)
G protein mediated signaling pathway via Galphaq family  (ISO)
ibutilide pharmacodynamics pathway  (EXP)
irbesartan pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
lisinopril pharmacodynamics pathway   (EXP)
losartan pharmacodynamics pathway  (EXP,TAS)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
moexipril pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
olmesartan pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
perindopril pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinapril pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
ramipril pharmacodynamics pathway   (EXP)
renin-angiotensin cascade pathway  (IEA,TAS)
sotalol pharmacodynamics pathway  (EXP)
spirapril pharmacodynamics pathway  (EXP)
telmisartan pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
trandolapril pharmacodynamics pathway  (EXP)
valsartan pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

References

References - curated
# Reference Title Reference Citation
1. Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits. Abdollahi MR, etal., Hum Mutat. 2007 Jan 8;28(4):365-373.
2. Dependence on the motif YIPP for the physical association of Jak2 kinase with the intracellular carboxyl tail of the angiotensin II AT1 receptor. Ali MS, etal., J Biol Chem. 1997 Sep 12;272(37):23382-8.
3. Genotypic interactions of renin-angiotensin system genes in myocardial infarction. Araujo MA, etal., Int J Cardiol. 2005 Aug 3;103(1):27-32. Epub 2004 Dec 15.
4. Candesartan cilexetil protects from cardiac myosin induced cardiotoxicity via reduction of endoplasmic reticulum stress and apoptosis in rats: involvement of ACE2-Ang (1-7)-mas axis. Arumugam S, etal., Toxicology. 2012 Jan 27;291(1-3):139-45. doi: 10.1016/j.tox.2011.11.008. Epub 2011 Nov 23.
5. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
6. Differential responses to salt supplementation in adult male and female rat adrenal glands following intrauterine growth restriction. Bibeau K, etal., J Endocrinol. 2011 Apr;209(1):85-94. Epub 2011 Feb 8.
7. Gene polymorphisms of ACE and the angiotensin receptor AT2R1 influence serum ACE levels in sarcoidosis. Biller H, etal., Sarcoidosis Vasc Diffuse Lung Dis. 2009 Jul;26(2):139-46.
8. Renal expression of angiotensin receptors in long-term diabetes and the effects of angiotensin type 1 receptor blockade. Bonnet F, etal., J Hypertens. 2002 Aug;20(8):1615-24.
9. Delineation of the intimate details of the backbone conformation of pyridine nucleotide coenzymes in aqueous solution. Bose KS and Sarma RH, Biochem Biophys Res Commun 1975 Oct 27;66(4):1173-9.
10. Effect of celecoxib on the antihypertensive effect of losartan in a rat model of renovascular hypertension. Boshra V, etal., Can J Physiol Pharmacol. 2011 Feb;89(2):103-7.
11. Telmisartan Prevents Alveolar Bone Loss by Decreasing the Expression of Osteoclasts Markers in Hypertensive Rats With Periodontal Disease. Brito VGB, etal., Front Pharmacol. 2020 Nov 11;11:579926. doi: 10.3389/fphar.2020.579926. eCollection 2020.
12. [Association of the renin-angiotensin system gene polymorphism with nephropathy in type II diabetes]. Buraczynska M, etal., Pol Arch Med Wewn. 2002 Aug;108(2):725-30.
13. Angiotensin type 2 receptor antagonism confers renal protection in a rat model of progressive renal injury. Cao Z, etal., J Am Soc Nephrol. 2002 Jul;13(7):1773-87.
14. Tubular expression of angiotensin II receptors and their regulation in IgA nephropathy. Chan LY, etal., J Am Soc Nephrol. 2005 Aug;16(8):2306-17. Epub 2005 Jun 1.
15. Upregulation of angiotensin II receptors in reflux nephropathy. Chertin B, etal., J Pediatr Surg. 2002 Feb;37(2):251-5.
16. Polymorphism in the angiotensin II type 1 receptor (AGTR1) is associated with age at diagnosis in pulmonary arterial hypertension. Chung WK, etal., J Heart Lung Transplant. 2009 Apr;28(4):373-9.
17. First evidence of aryl hydrocarbon receptor as a druggable target in hypertension induced by chronic intermittent hypoxia. Coelho NR, etal., Pharmacol Res. 2020 Sep;159:104869. doi: 10.1016/j.phrs.2020.104869. Epub 2020 May 19.
18. Association between the A1166C polymorphism of the angiotensin II receptor type 1 and progression of chronic renal insufficiency. Coll E, etal., J Nephrol. 2003 May-Jun;16(3):357-64.
19. Angiotensin II receptor type 1 is upregulated in atrial tissue of patients with rheumatic valvular disease with atrial fibrillation. Cong H, etal., J Thorac Cardiovasc Surg. 2010 Aug;140(2):298-304. Epub 2010 Jan 18.
20. Chronic infusion of angiotensin receptor antagonists in the hypothalamic paraventricular nucleus prevents hypertension in a rat model of sleep apnea. da Silva AQ, etal., Brain Res. 2011 Jan 12;1368:231-8. Epub 2010 Oct 30.
21. International union of pharmacology. XXIII. The angiotensin II receptors. de Gasparo M, etal., Pharmacol Rev. 2000 Sep;52(3):415-72.
22. Angiotensin-2 receptors (AT1-R and AT2-R), new prognostic factors for renal clear-cell carcinoma? Dolley-Hitze T, etal., Br J Cancer. 2010 Nov 23;103(11):1698-705.
23. Angiotensin II, via AT1 and AT2 receptors and NF-kappaB pathway, regulates the inflammatory response in unilateral ureteral obstruction. Esteban V, etal., J Am Soc Nephrol. 2004 Jun;15(6):1514-29.
24. Genetic polymorphisms of the renin-angiotensin system in breast cancer patients. Fishchuk LE and Gorovenko NG, Exp Oncol. 2013 Jun;35(2):101-4.
25. Angiotensin II type 1 receptor A1166C gene polymorphism. Absence of an association with the risk of coronary artery disease and myocardial infarction and of a synergistic effect with angiotensin-converting enzyme gene polymorphism on the risk of these diseases. Gardemann A, etal., Eur Heart J. 1998 Nov;19(11):1657-65.
26. Alterations in angiotensin AT1 and AT2 receptor subtype levels in brain regions from patients with neurodegenerative disorders. Ge J and Barnes NM, Eur J Pharmacol. 1996 Feb 22;297(3):299-306.
27. The role of the renin-angiotensin system in cholesterol and puromycin mediated renal injury. Ghosh S, etal., Am J Med Sci. 2002 Dec;324(6):296-304.
28. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
29. Placental gene expression in a rat 'model' of placental insufficiency. Goyal R, etal., Placenta. 2010 Jul;31(7):568-75. Epub 2010 Jun 8.
30. Angiotensin-II type 1 receptor-mediated Janus kinase 2 activation induces liver fibrosis. Granzow M, etal., Hepatology. 2014 Jul;60(1):334-48. doi: 10.1002/hep.27117. Epub 2014 May 6.
31. Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Gribouval O, etal., Nat Genet. 2005 Sep;37(9):964-8. Epub 2005 Aug 14.
32. Type 1 angiotensin II receptor-associated protein ARAP1 binds and recycles the receptor to the plasma membrane. Guo DF, etal., Biochem Biophys Res Commun. 2003 Oct 31;310(4):1254-65.
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PMID:21873635   PMID:21937042   PMID:21970881   PMID:21986569   PMID:22021115   PMID:22084859   PMID:22147663   PMID:22237156   PMID:22282354   PMID:22291018   PMID:22297600   PMID:22323719  
PMID:22362742   PMID:22387727   PMID:22392878   PMID:22407459   PMID:22433249   PMID:22475523   PMID:22484478   PMID:22555639   PMID:22561363   PMID:22569962   PMID:22581182   PMID:22590832  
PMID:22613986   PMID:22645060   PMID:22647632   PMID:22703619   PMID:22719026   PMID:22758920   PMID:22782431   PMID:22935142   PMID:22939041   PMID:23081748   PMID:23145508   PMID:23176211  
PMID:23178513   PMID:23210602   PMID:23223091   PMID:23223579   PMID:23273598   PMID:23326349   PMID:23386604   PMID:23389452   PMID:23451270   PMID:23480300   PMID:23480670   PMID:23484035  
PMID:23505107   PMID:23536940   PMID:23564192   PMID:23567951   PMID:23585396   PMID:23592589   PMID:23592774   PMID:23597562   PMID:23603059   PMID:23615648   PMID:23681235   PMID:23694962  
PMID:23700157   PMID:23745680   PMID:23755207   PMID:23783021   PMID:23880184   PMID:23902432   PMID:23942655   PMID:23971628   PMID:23990179   PMID:24015270   PMID:24020479   PMID:24047102  
PMID:24055489   PMID:24068433   PMID:24093454   PMID:24122090   PMID:24131669   PMID:24145933   PMID:24167376   PMID:24202179   PMID:24214591   PMID:24218433   PMID:24241364   PMID:24244341  
PMID:24255721   PMID:24385301   PMID:24400721   PMID:24452940   PMID:24465706   PMID:24530241   PMID:24530803   PMID:24612997   PMID:24627317   PMID:24654435   PMID:24692224   PMID:24727057  
PMID:24813328   PMID:24815690   PMID:24875414   PMID:24978482   PMID:24981111   PMID:24992619   PMID:24992666   PMID:25025993   PMID:25031294   PMID:25056169   PMID:25070892   PMID:25077884  
PMID:25109108   PMID:25138435   PMID:25168322   PMID:25170081   PMID:25172908   PMID:25198883   PMID:25218469   PMID:25219839   PMID:25224569   PMID:25231994   PMID:25316403   PMID:25345602  
PMID:25380825   PMID:25416956   PMID:25512374   PMID:25556973   PMID:25572238   PMID:25585948   PMID:25603901   PMID:25628312   PMID:25645462   PMID:25652270   PMID:25682288   PMID:25760379  
PMID:25807851   PMID:25808596   PMID:25850724   PMID:25891704   PMID:25913193   PMID:25932559   PMID:25934394   PMID:25936314   PMID:25961019   PMID:25990648   PMID:26041128   PMID:26045830  
PMID:26119526   PMID:26138177   PMID:26138553   PMID:26142106   PMID:26186194   PMID:26225830   PMID:26261635   PMID:26345849   PMID:26350097   PMID:26366788   PMID:26395033   PMID:26420482  
PMID:26460884   PMID:26524813   PMID:26546592   PMID:26588355   PMID:26615960   PMID:26626074   PMID:26634463   PMID:26658476   PMID:26675563   PMID:26681690   PMID:26773103   PMID:26782590  
PMID:26857745   PMID:26901789   PMID:26975580   PMID:27016615   PMID:27045027   PMID:27050965   PMID:27213551   PMID:27222934   PMID:27240348   PMID:27251358   PMID:27285537   PMID:27330080  
PMID:27339867   PMID:27342049   PMID:27447725   PMID:27488275   PMID:27492718   PMID:27496272   PMID:27533781   PMID:27564102   PMID:27639288   PMID:27732943   PMID:27756246   PMID:27910864  
PMID:27988909   PMID:28073349   PMID:28096461   PMID:28102934   PMID:28120210   PMID:28157766   PMID:28261571   PMID:28298427   PMID:28372986   PMID:28376480   PMID:28512108   PMID:28513230  
PMID:28514442   PMID:28514967   PMID:28518223   PMID:28527699   PMID:28530466   PMID:28584054   PMID:28597796   PMID:28599664   PMID:28641212   PMID:28648738   PMID:28767535   PMID:28792482  
PMID:28854843   PMID:29036458   PMID:29039830   PMID:29052864   PMID:29092665   PMID:29097625   PMID:29266977   PMID:29296021   PMID:29441892   PMID:29455433   PMID:29482191   PMID:29507275  
PMID:29593124   PMID:29627490   PMID:29642183   PMID:29873596   PMID:29982608   PMID:29984662   PMID:30084918   PMID:30094750   PMID:30105775   PMID:30159797   PMID:30205174   PMID:30231967  
PMID:30255752   PMID:30313019   PMID:30380548   PMID:30514808   PMID:30529618   PMID:30547791   PMID:30639100   PMID:30712667   PMID:30790131   PMID:30793973   PMID:30798689   PMID:30845964  
PMID:30920415   PMID:30990135   PMID:31048445   PMID:31061349   PMID:31195108   PMID:31530642   PMID:31538912   PMID:31554351   PMID:31562296   PMID:31721599   PMID:31912773   PMID:32057249  
PMID:32079768   PMID:32093874   PMID:32306916   PMID:32451494   PMID:32633380   PMID:32661792   PMID:32673965   PMID:32674346   PMID:32751352   PMID:32777324   PMID:32871226   PMID:32896760  
PMID:32989965   PMID:33025841   PMID:33100208   PMID:33173183   PMID:33230614   PMID:33339432   PMID:33378010   PMID:33480126   PMID:33541272   PMID:33707701   PMID:33713620   PMID:33741329  
PMID:33758348   PMID:33961781   PMID:34107716   PMID:34144455   PMID:34757123   PMID:34860335   PMID:34921637   PMID:35038454   PMID:35091110   PMID:35126748   PMID:35307690   PMID:35341274  
PMID:35408447   PMID:35435021   PMID:35866766   PMID:36082713   PMID:36174833   PMID:36174930   PMID:36175813   PMID:36397318   PMID:36535607   PMID:36564389   PMID:36577936   PMID:36598307  
PMID:36995873   PMID:37178812   PMID:37270600   PMID:37525908   PMID:37627246   PMID:37777161   PMID:37996337   PMID:38061417   PMID:38112365   PMID:38158508   PMID:38262555   PMID:38285770  
PMID:38380450   PMID:38635772   PMID:38649831   PMID:38697603   PMID:38852191   PMID:39080710   PMID:39288250  


Genomics

Comparative Map Data
AGTR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383148,697,903 - 148,743,003 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3148,697,784 - 148,743,008 (+)EnsemblGRCh38hg38GRCh38
GRCh373148,415,690 - 148,460,790 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363149,898,348 - 149,943,480 (+)NCBINCBI36Build 36hg18NCBI36
Build 343149,940,284 - 149,943,486NCBI
Celera3146,826,000 - 146,871,131 (+)NCBICelera
Cytogenetic Map3q24NCBI
HuRef3145,788,031 - 145,833,163 (+)NCBIHuRef
CHM1_13148,378,782 - 148,423,918 (+)NCBICHM1_1
T2T-CHM13v2.03151,448,936 - 151,494,033 (+)NCBIT2T-CHM13v2.0
Agtr1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391330,520,339 - 30,566,850 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1330,520,424 - 30,566,850 (+)EnsemblGRCm39 Ensembl
GRCm381330,336,356 - 30,382,867 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1330,336,441 - 30,382,867 (+)EnsemblGRCm38mm10GRCm38
MGSCv371330,428,225 - 30,474,736 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361330,343,922 - 30,390,332 (+)NCBIMGSCv36mm8
Celera1330,550,710 - 30,597,281 (+)NCBICelera
Cytogenetic Map13A3.2NCBI
cM Map1313.19NCBI
Agtr1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81734,383,397 - 34,435,523 (-)NCBIGRCr8
mRatBN7.21734,173,446 - 34,226,892 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1734,174,429 - 34,226,946 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1734,003,015 - 34,054,637 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01735,606,893 - 35,658,508 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01733,998,820 - 34,050,440 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01735,907,102 - 35,958,136 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1735,907,108 - 35,958,077 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01737,217,810 - 37,270,540 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41740,629,318 - 40,684,982 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11740,632,160 - 40,687,823 (-)NCBI
Celera1733,705,975 - 33,757,157 (-)NCBICelera
Cytogenetic Map17p12NCBI
Agtr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554748,733,942 - 8,781,255 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554748,733,942 - 8,781,305 (-)NCBIChiLan1.0ChiLan1.0
AGTR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22146,594,053 - 146,639,172 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13146,599,078 - 146,643,902 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03145,722,475 - 145,767,550 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13153,301,331 - 153,346,268 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3153,341,947 - 153,345,380 (+)Ensemblpanpan1.1panPan2
AGTR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12343,569,658 - 43,617,113 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2343,614,035 - 43,616,238 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2343,434,074 - 43,481,582 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02344,190,631 - 44,238,133 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12343,779,664 - 43,827,179 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02343,832,799 - 43,880,312 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02344,086,806 - 44,134,323 (+)NCBIUU_Cfam_GSD_1.0
Agtr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560282,859,961 - 82,902,941 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365196,831,096 - 6,873,985 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365196,831,096 - 6,873,977 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGTR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1388,934,868 - 88,983,105 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11388,934,873 - 88,980,317 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21396,933,114 - 96,978,419 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AGTR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11541,957,826 - 42,002,776 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604114,800,710 - 14,845,597 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Agtr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473025,964,811 - 26,006,463 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473025,964,848 - 26,006,468 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AGTR1
119 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000685.5(AGTR1):c.*86A>C single nucleotide variant Essential hypertension, genetic [RCV002482889]|Hypertension, essential, susceptibility to [RCV000019688]|Renal tubular dysgenesis [RCV000374969]|not provided [RCV001723581] Chr3:148742201 [GRCh38]
Chr3:148459988 [GRCh37]
Chr3:3q24
risk factor|benign|likely benign
NM_000685.5(AGTR1):c.110dup (p.Ile38fs) duplication Renal tubular dysgenesis [RCV000019689] Chr3:148741144..148741145 [GRCh38]
Chr3:148458931..148458932 [GRCh37]
Chr3:3q24
pathogenic|likely pathogenic
NM_000685.5(AGTR1):c.845C>T (p.Thr282Met) single nucleotide variant Renal tubular dysgenesis [RCV000019690] Chr3:148741880 [GRCh38]
Chr3:148459667 [GRCh37]
Chr3:3q24
pathogenic
NM_000685.5(AGTR1):c.376C>T (p.Arg126Ter) single nucleotide variant Essential hypertension, genetic [RCV005025097]|Renal tubular dysgenesis [RCV000043469] Chr3:148741411 [GRCh38]
Chr3:148459198 [GRCh37]
Chr3:3q24
pathogenic|likely pathogenic
NM_000685.5(AGTR1):c.251G>A (p.Trp84Ter) single nucleotide variant Essential hypertension, genetic [RCV005025096]|Renal tubular dysgenesis [RCV000043468] Chr3:148741286 [GRCh38]
Chr3:148459073 [GRCh37]
Chr3:3q24
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1
pathogenic|likely benign
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_000685.5(AGTR1):c.*135C>T single nucleotide variant Renal tubular dysgenesis [RCV000261670]|not provided [RCV004716030] Chr3:148742250 [GRCh38]
Chr3:148460037 [GRCh37]
Chr3:3q24
benign|likely benign
NM_031850.3(AGTR1):c.-339T>G single nucleotide variant Renal tubular dysgenesis [RCV000267765] Chr3:148697873 [GRCh38]
Chr3:148415660 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.-239G>T single nucleotide variant Renal tubular dysgenesis [RCV000278792] Chr3:148698020 [GRCh38]
Chr3:148415807 [GRCh37]
Chr3:3q24
likely benign|uncertain significance
NM_000685.5(AGTR1):c.893A>G (p.Asn298Ser) single nucleotide variant Essential hypertension, genetic [RCV002487510]|Renal tubular dysgenesis [RCV000266272]|not provided [RCV001850823] Chr3:148741928 [GRCh38]
Chr3:148459715 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.1062A>G (p.Pro354=) single nucleotide variant Renal tubular dysgenesis [RCV000260416]|not provided [RCV001597004]|not specified [RCV000243429] Chr3:148742097 [GRCh38]
Chr3:148459884 [GRCh37]
Chr3:3q24
benign
NM_000685.5(AGTR1):c.573C>T (p.Leu191=) single nucleotide variant Renal tubular dysgenesis [RCV000392743]|not provided [RCV001640490]|not specified [RCV000248373] Chr3:148741608 [GRCh38]
Chr3:148459395 [GRCh37]
Chr3:3q24
benign
NM_000685.5(AGTR1):c.340G>A (p.Ala114Thr) single nucleotide variant Essential hypertension, genetic [RCV002502319]|Renal tubular dysgenesis [RCV000314268]|not provided [RCV002520094] Chr3:148741375 [GRCh38]
Chr3:148459162 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*362G>A single nucleotide variant Renal tubular dysgenesis [RCV000333971] Chr3:148742477 [GRCh38]
Chr3:148460264 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*70T>G single nucleotide variant Renal tubular dysgenesis [RCV000315608]|not provided [RCV001672623] Chr3:148742185 [GRCh38]
Chr3:148459972 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000685.5(AGTR1):c.308T>C (p.Ile103Thr) single nucleotide variant AGTR1-related disorder [RCV003950207]|Renal tubular dysgenesis [RCV000399815]|not provided [RCV002520093] Chr3:148741343 [GRCh38]
Chr3:148459130 [GRCh37]
Chr3:3q24
likely benign|uncertain significance
NM_000685.5(AGTR1):c.*798G>A single nucleotide variant Renal tubular dysgenesis [RCV000401559]|not provided [RCV004716034] Chr3:148742913 [GRCh38]
Chr3:148460700 [GRCh37]
Chr3:3q24
benign
NM_000685.5(AGTR1):c.942C>T (p.Leu314=) single nucleotide variant Renal tubular dysgenesis [RCV000302585]|not provided [RCV002523246] Chr3:148741977 [GRCh38]
Chr3:148459764 [GRCh37]
Chr3:3q24
likely benign|uncertain significance
NM_000685.5(AGTR1):c.*461C>A single nucleotide variant Renal tubular dysgenesis [RCV000289445]|not provided [RCV004716033] Chr3:148742576 [GRCh38]
Chr3:148460363 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000685.5(AGTR1):c.-184C>A single nucleotide variant Renal tubular dysgenesis [RCV000338548] Chr3:148698075 [GRCh38]
Chr3:148415862 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000685.5(AGTR1):c.*437G>T single nucleotide variant Renal tubular dysgenesis [RCV000381534]|not provided [RCV004716032] Chr3:148742552 [GRCh38]
Chr3:148460339 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000685.5(AGTR1):c.1008G>A (p.Thr336=) single nucleotide variant Renal tubular dysgenesis [RCV000361974]|not provided [RCV002520095] Chr3:148742043 [GRCh38]
Chr3:148459830 [GRCh37]
Chr3:3q24
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031850.3(AGTR1):c.-329G>T single nucleotide variant Renal tubular dysgenesis [RCV000323444] Chr3:148697883 [GRCh38]
Chr3:148415670 [GRCh37]
Chr3:3q24
benign|uncertain significance
NM_000685.5(AGTR1):c.*317G>A single nucleotide variant Renal tubular dysgenesis [RCV000385487]|not provided [RCV004716031] Chr3:148742432 [GRCh38]
Chr3:148460219 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000685.5(AGTR1):c.170T>C (p.Met57Thr) single nucleotide variant Renal tubular dysgenesis [RCV000293905] Chr3:148741205 [GRCh38]
Chr3:148458992 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.427C>A (p.Leu143Ile) single nucleotide variant Renal tubular dysgenesis [RCV000345798] Chr3:148741462 [GRCh38]
Chr3:148459249 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*335A>T single nucleotide variant Renal tubular dysgenesis [RCV000295423] Chr3:148742450 [GRCh38]
Chr3:148460237 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.284_291del (p.Pro95fs) deletion not provided [RCV000722621] Chr3:148741315..148741322 [GRCh38]
Chr3:148459102..148459109 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*251G>A single nucleotide variant Renal tubular dysgenesis [RCV000330933] Chr3:148742366 [GRCh38]
Chr3:148460153 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*463A>G single nucleotide variant Renal tubular dysgenesis [RCV000346632] Chr3:148742578 [GRCh38]
Chr3:148460365 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.764C>T (p.Pro255Leu) single nucleotide variant Renal tubular dysgenesis [RCV000365536] Chr3:148741799 [GRCh38]
Chr3:148459586 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.-331C>G single nucleotide variant Renal tubular dysgenesis [RCV000373386] Chr3:148697928 [GRCh38]
Chr3:148415715 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.609T>C (p.Gly203=) single nucleotide variant Renal tubular dysgenesis [RCV000310631]|not provided [RCV004694711] Chr3:148741644 [GRCh38]
Chr3:148459431 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.152T>C (p.Ile51Thr) single nucleotide variant Renal tubular dysgenesis [RCV000374387] Chr3:148741187 [GRCh38]
Chr3:148458974 [GRCh37]
Chr3:3q24
uncertain significance
NC_000003.12:g.148743014T>G single nucleotide variant Renal tubular dysgenesis [RCV000277321] Chr3:148743014 [GRCh38]
Chr3:148460801 [GRCh37]
Chr3:3q24
likely benign
NM_000685.5(AGTR1):c.941T>G (p.Leu314Arg) single nucleotide variant Essential hypertension, genetic [RCV005029399]|not provided [RCV000734441] Chr3:148741976 [GRCh38]
Chr3:148459763 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1 copy number loss See cases [RCV000447056] Chr3:148425748..153220169 [GRCh37]
Chr3:3q24-25.2
pathogenic
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000685.5(AGTR1):c.-47-1134T>C single nucleotide variant not provided [RCV001690705] Chr3:148739855 [GRCh38]
Chr3:148457642 [GRCh37]
Chr3:3q24
benign
NM_000685.5(AGTR1):c.1059A>C (p.Ala353=) single nucleotide variant not provided [RCV000925644] Chr3:148742094 [GRCh38]
Chr3:148459881 [GRCh37]
Chr3:3q24
likely benign
NM_000685.5(AGTR1):c.193G>A (p.Val65Ile) single nucleotide variant AGTR1-related disorder [RCV004753097]|Renal tubular dysgenesis [RCV001149672]|not provided [RCV000901265] Chr3:148741228 [GRCh38]
Chr3:148459015 [GRCh37]
Chr3:3q24
likely benign
NM_000685.5(AGTR1):c.576G>A (p.Pro192=) single nucleotide variant not provided [RCV000943142] Chr3:148741611 [GRCh38]
Chr3:148459398 [GRCh37]
Chr3:3q24
likely benign
GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1 copy number loss not provided [RCV001005476] Chr3:144053029..150272658 [GRCh37]
Chr3:3q24-25.1
likely pathogenic
NM_000685.5(AGTR1):c.*40A>T single nucleotide variant Renal tubular dysgenesis [RCV001147301] Chr3:148742155 [GRCh38]
Chr3:148459942 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*229C>T single nucleotide variant Renal tubular dysgenesis [RCV001148223] Chr3:148742344 [GRCh38]
Chr3:148460131 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*556T>C single nucleotide variant Renal tubular dysgenesis [RCV001149773] Chr3:148742671 [GRCh38]
Chr3:148460458 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.-353C>G single nucleotide variant Renal tubular dysgenesis [RCV001148115] Chr3:148697906 [GRCh38]
Chr3:148415693 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.-227T>C single nucleotide variant Renal tubular dysgenesis [RCV001148116] Chr3:148698032 [GRCh38]
Chr3:148415819 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.-115A>G single nucleotide variant Renal tubular dysgenesis [RCV001148117] Chr3:148707960 [GRCh38]
Chr3:148425747 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3q24(chr3:146996270-148622676)x1 copy number loss not provided [RCV000845962] Chr3:146996270..148622676 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*93A>G single nucleotide variant Renal tubular dysgenesis [RCV001147303] Chr3:148742208 [GRCh38]
Chr3:148459995 [GRCh37]
Chr3:3q24
benign
NM_000685.5(AGTR1):c.696_700del (p.Pro233fs) deletion Essential hypertension, genetic [RCV005038256]|not provided [RCV001543567] Chr3:148741728..148741732 [GRCh38]
Chr3:148459515..148459519 [GRCh37]
Chr3:3q24
likely pathogenic
NM_000685.5(AGTR1):c.487G>A (p.Ala163Thr) single nucleotide variant Renal tubular dysgenesis [RCV001145355]|not provided [RCV000889099] Chr3:148741522 [GRCh38]
Chr3:148459309 [GRCh37]
Chr3:3q24
likely benign
NM_000685.5(AGTR1):c.730G>T (p.Ala244Ser) single nucleotide variant Renal tubular dysgenesis [RCV001145358]|not provided [RCV000953205] Chr3:148741765 [GRCh38]
Chr3:148459552 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000685.5(AGTR1):c.-16G>A single nucleotide variant Renal tubular dysgenesis [RCV001149670]|not provided [RCV000907538] Chr3:148741020 [GRCh38]
Chr3:148458807 [GRCh37]
Chr3:3q24
likely benign|uncertain significance
NM_000685.5(AGTR1):c.298C>T (p.Leu100=) single nucleotide variant not provided [RCV000943438] Chr3:148741333 [GRCh38]
Chr3:148459120 [GRCh37]
Chr3:3q24
likely benign
NM_000685.5(AGTR1):c.-48+7G>A single nucleotide variant Renal tubular dysgenesis [RCV001148118] Chr3:148708034 [GRCh38]
Chr3:148425821 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*432G>A single nucleotide variant Renal tubular dysgenesis [RCV001148224] Chr3:148742547 [GRCh38]
Chr3:148460334 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.408C>A (p.Ser136=) single nucleotide variant not provided [RCV000911609] Chr3:148741443 [GRCh38]
Chr3:148459230 [GRCh37]
Chr3:3q24
likely benign
NM_000685.5(AGTR1):c.-47-866T>C single nucleotide variant not provided [RCV001660792] Chr3:148740123 [GRCh38]
Chr3:148457910 [GRCh37]
Chr3:3q24
benign
NM_000685.5(AGTR1):c.377G>C (p.Arg126Pro) single nucleotide variant Renal dysplasia, cystic, susceptibility to [RCV001807666] Chr3:148741412 [GRCh38]
Chr3:148459199 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31
pathogenic
NM_000685.5(AGTR1):c.-47-11020G>A single nucleotide variant not provided [RCV001619056] Chr3:148729969 [GRCh38]
Chr3:148447756 [GRCh37]
Chr3:3q24
benign
NM_000685.5(AGTR1):c.-47-313T>A single nucleotide variant not provided [RCV001608896] Chr3:148740676 [GRCh38]
Chr3:148458463 [GRCh37]
Chr3:3q24
benign
NM_000685.5(AGTR1):c.-47-931T>C single nucleotide variant not provided [RCV001620260] Chr3:148740058 [GRCh38]
Chr3:148457845 [GRCh37]
Chr3:3q24
benign
NM_000685.5(AGTR1):c.-47-1303T>C single nucleotide variant not provided [RCV001595206] Chr3:148739686 [GRCh38]
Chr3:148457473 [GRCh37]
Chr3:3q24
benign
NM_000685.5(AGTR1):c.500G>A (p.Arg167Gln) single nucleotide variant Essential hypertension, genetic [RCV005029723]|Renal tubular dysgenesis [RCV001145356]|not provided [RCV001543568] Chr3:148741535 [GRCh38]
Chr3:148459322 [GRCh37]
Chr3:3q24
likely pathogenic|uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
NM_000685.5(AGTR1):c.*593G>A single nucleotide variant Renal tubular dysgenesis [RCV001149775] Chr3:148742708 [GRCh38]
Chr3:148460495 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*672G>C single nucleotide variant Renal tubular dysgenesis [RCV001149776] Chr3:148742787 [GRCh38]
Chr3:148460574 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.113T>C (p.Ile38Thr) single nucleotide variant Essential hypertension, genetic [RCV002483880]|Renal tubular dysgenesis [RCV001149671] Chr3:148741148 [GRCh38]
Chr3:148458935 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*584C>T single nucleotide variant Renal tubular dysgenesis [RCV001149774] Chr3:148742699 [GRCh38]
Chr3:148460486 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.815G>C (p.Arg272Pro) single nucleotide variant Renal tubular dysgenesis [RCV001145359] Chr3:148741850 [GRCh38]
Chr3:148459637 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*816C>A single nucleotide variant Renal tubular dysgenesis [RCV001143878] Chr3:148742931 [GRCh38]
Chr3:148460718 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*883T>C single nucleotide variant Renal tubular dysgenesis [RCV001143879] Chr3:148742998 [GRCh38]
Chr3:148460785 [GRCh37]
Chr3:3q24
uncertain significance
NM_031850.3(AGTR1):c.*902A>G single nucleotide variant Renal tubular dysgenesis [RCV001143880] Chr3:148743017 [GRCh38]
Chr3:148460804 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.697C>A (p.Pro233Thr) single nucleotide variant Essential hypertension, genetic [RCV002505719]|Renal tubular dysgenesis [RCV001145357]|not provided [RCV001356298] Chr3:148741732 [GRCh38]
Chr3:148459519 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*48G>A single nucleotide variant Renal tubular dysgenesis [RCV001147302] Chr3:148742163 [GRCh38]
Chr3:148459950 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.*178G>A single nucleotide variant Renal tubular dysgenesis [RCV001148222] Chr3:148742293 [GRCh38]
Chr3:148460080 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.879del (p.Phe293fs) deletion Renal tubular dysgenesis [RCV001807654] Chr3:148741911 [GRCh38]
Chr3:148459698 [GRCh37]
Chr3:3q24
likely pathogenic
NM_000685.5(AGTR1):c.742_743del (p.Phe248fs) deletion not provided [RCV004761425] Chr3:148741775..148741776 [GRCh38]
Chr3:148459562..148459563 [GRCh37]
Chr3:3q24
pathogenic|uncertain significance
NM_000685.5(AGTR1):c.46del (p.Asp16fs) deletion Renal dysplasia [RCV001333301] Chr3:148741081 [GRCh38]
Chr3:148458868 [GRCh37]
Chr3:3q24
pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
NM_000685.5(AGTR1):c.599dup (p.Asn200fs) duplication Essential hypertension [RCV001535835]|not provided [RCV001873795] Chr3:148741629..148741630 [GRCh38]
Chr3:148459416..148459417 [GRCh37]
Chr3:3q24
likely pathogenic|uncertain significance
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3 copy number gain Brachycephaly [RCV001801182] Chr3:142729607..157921084 [GRCh37]
Chr3:3q23-25.32
pathogenic
NM_000685.5(AGTR1):c.221A>C (p.Asp74Ala) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV001801268] Chr3:148741256 [GRCh38]
Chr3:148459043 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 copy number loss not provided [RCV001795847] Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1
pathogenic
NM_000685.5(AGTR1):c.761T>A (p.Ile254Asn) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV001801269] Chr3:148741796 [GRCh38]
Chr3:148459583 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.428T>G (p.Leu143Arg) single nucleotide variant not provided [RCV001914609] Chr3:148741463 [GRCh38]
Chr3:148459250 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.1080A>G (p.Ter360Trp) single nucleotide variant Essential hypertension, genetic [RCV002507749]|not provided [RCV002025234] Chr3:148742115 [GRCh38]
Chr3:148459902 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.925T>C (p.Phe309Leu) single nucleotide variant Essential hypertension, genetic [RCV002490046]|not provided [RCV001894876] Chr3:148741960 [GRCh38]
Chr3:148459747 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.733A>G (p.Ile245Val) single nucleotide variant not provided [RCV002023056] Chr3:148741768 [GRCh38]
Chr3:148459555 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) copy number gain not specified [RCV002053375] Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33
pathogenic
NC_000003.11:g.(?_148447967)_(148885790_?)del deletion not provided [RCV001941849] Chr3:148447967..148885790 [GRCh37]
Chr3:3q24
pathogenic
NC_000003.11:g.(?_148447967)_(151176497_?)del deletion Glycogen storage disease XV [RCV003120787] Chr3:148447967..151176497 [GRCh37]
Chr3:3q24-25.1
pathogenic
NM_000685.5(AGTR1):c.736G>C (p.Val246Leu) single nucleotide variant Essential hypertension, genetic [RCV005025674]|not provided [RCV002033991] Chr3:148741771 [GRCh38]
Chr3:148459558 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.253G>T (p.Ala85Ser) single nucleotide variant not provided [RCV002019299] Chr3:148741288 [GRCh38]
Chr3:148459075 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.208T>A (p.Leu70Ile) single nucleotide variant Inborn genetic diseases [RCV002563538]|not provided [RCV001997301] Chr3:148741243 [GRCh38]
Chr3:148459030 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.138C>G (p.Asn46Lys) single nucleotide variant not provided [RCV002028112] Chr3:148741173 [GRCh38]
Chr3:148458960 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.1017C>T (p.Tyr339=) single nucleotide variant Essential hypertension, genetic [RCV002494179]|not provided [RCV002110995] Chr3:148742052 [GRCh38]
Chr3:148459839 [GRCh37]
Chr3:3q24
likely benign
NM_000685.5(AGTR1):c.233del (p.Leu78fs) deletion Essential hypertension, genetic [RCV002249239] Chr3:148741264 [GRCh38]
Chr3:148459051 [GRCh37]
Chr3:3q24
pathogenic
NM_000685.5(AGTR1):c.419G>A (p.Arg140His) single nucleotide variant Essential hypertension, genetic [RCV002249240]|Essential hypertension, genetic [RCV005032195] Chr3:148741454 [GRCh38]
Chr3:148459241 [GRCh37]
Chr3:3q24
pathogenic|uncertain significance
NM_000685.5(AGTR1):c.779C>T (p.Thr260Ile) single nucleotide variant Essential hypertension, genetic [RCV005029961]|Inborn genetic diseases [RCV003286548] Chr3:148741814 [GRCh38]
Chr3:148459601 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.415C>T (p.Arg139Ter) single nucleotide variant Renal tubular dysgenesis of genetic origin [RCV003128377] Chr3:148741450 [GRCh38]
Chr3:148459237 [GRCh37]
Chr3:3q24
pathogenic|likely pathogenic
NM_000685.5(AGTR1):c.584T>C (p.Leu195Pro) single nucleotide variant not provided [RCV002614653] Chr3:148741619 [GRCh38]
Chr3:148459406 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.-47-10781A>G single nucleotide variant not provided [RCV002967413] Chr3:148730208 [GRCh38]
Chr3:148447995 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.400A>G (p.Met134Val) single nucleotide variant Essential hypertension, genetic [RCV005028076]|not provided [RCV002967426] Chr3:148741435 [GRCh38]
Chr3:148459222 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.732A>G (p.Ala244=) single nucleotide variant not provided [RCV002750577] Chr3:148741767 [GRCh38]
Chr3:148459554 [GRCh37]
Chr3:3q24
likely benign
NM_000685.5(AGTR1):c.707A>T (p.Asp236Val) single nucleotide variant Inborn genetic diseases [RCV002883990] Chr3:148741742 [GRCh38]
Chr3:148459529 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.993A>G (p.Ser331=) single nucleotide variant not provided [RCV002841979] Chr3:148742028 [GRCh38]
Chr3:148459815 [GRCh37]
Chr3:3q24
likely benign
NM_000685.5(AGTR1):c.177G>A (p.Leu59=) single nucleotide variant not provided [RCV003014405] Chr3:148741212 [GRCh38]
Chr3:148458999 [GRCh37]
Chr3:3q24
likely benign
NM_000685.5(AGTR1):c.797T>C (p.Ile266Thr) single nucleotide variant Inborn genetic diseases [RCV002863889] Chr3:148741832 [GRCh38]
Chr3:148459619 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.1019G>A (p.Arg340His) single nucleotide variant not provided [RCV002593187] Chr3:148742054 [GRCh38]
Chr3:148459841 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.-41T>G single nucleotide variant Essential hypertension, genetic [RCV005027990]|not provided [RCV002847285] Chr3:148740995 [GRCh38]
Chr3:148458782 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.974A>G (p.Lys325Arg) single nucleotide variant not provided [RCV002979011] Chr3:148742009 [GRCh38]
Chr3:148459796 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.507A>G (p.Val169=) single nucleotide variant not provided [RCV002570959] Chr3:148741542 [GRCh38]
Chr3:148459329 [GRCh37]
Chr3:3q24
likely benign
NM_000685.5(AGTR1):c.1054C>T (p.Pro352Ser) single nucleotide variant not provided [RCV002591054] Chr3:148742089 [GRCh38]
Chr3:148459876 [GRCh37]
Chr3:3q24
uncertain significance
NM_000685.5(AGTR1):c.800A>G (p.Gln267Arg) single nucleotide variant Inborn genetic diseases [RCV002696780] Chr3:148741835 [GRCh38]
Chr3:148459622 [GRCh37]
Chr3:3q24
uncer