AGTR1 Chromosome 3

Angiotensin II receptor type 1
15 variants 15 Health Risk

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What This Gene Does
Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
Angiotensin receptors
Locus Type
gene with protein product
Location
3q24
Ensembl
ENSG00000144891
Associated Conditions (6)
Renal tubular dysgenesis
Essential hypertension
genetic
Renal tubular dysgenesis of genetic origin
AGTR1-related disorder
Inborn genetic diseases
Key Variants
All Variants (15)
RSID Category Clinical Significance Conditions
RS138997091 Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS143432118 Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS146357970 Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS200184769 Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Essential hypertension, genetic
RS376789057 Health Risk Conflicting classifications of pathogenicity AGTR1-related disorder, Renal tubular dysgenesis of genetic origin, Essential hypertension
RS570056677 Health Risk Conflicting classifications of pathogenicity Essential hypertension, genetic, Renal tubular dysgenesis of genetic origin
RS1559934279 Health Risk Likely pathogenic Essential hypertension, Renal tubular dysgenesis, Essential hypertension
RS2107975487 Health Risk Likely pathogenic Essential hypertension, genetic, Renal tubular dysgenesis of genetic origin
RS2107975850 Health Risk Likely pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS387906577 Health Risk Likely pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS397514687 Health Risk Likely pathogenic Renal tubular dysgenesis, Essential hypertension, genetic
RS104893677 Health Risk Pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS1380295297 Health Risk Pathogenic Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
RS398122935 Health Risk Pathogenic Renal tubular dysgenesis, Essential hypertension, genetic
RS1417391173 Health Risk Pathogenic/Likely pathogenic Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
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