AGT Chromosome 1
Angiotensinogen
Upload your DNA to see your personal genotypes for variants in AGT.
What This Gene Does
The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure, body fluid and electrolyte homeostasis, and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Nov 2019]
Gene Info
Gene Group
"Serpin peptidase inhibitors|Neuropeptides"
Locus Type
gene with protein product
Location
1q42.2
Ensembl
ENSG00000135744
Associated Conditions (8)
Renal tubular dysgenesis of genetic origin
Renal tubular dysgenesis
Essential hypertension
genetic
AGT-related disorder
Large fontanelles
Anhydramnios
Inborn genetic diseases
Key Variants
RS112711075
Conflicting classifications of pathogenicity
Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
Health Risk
RS13306155
Conflicting classifications of pathogenicity
Renal tubular dysgenesis, Essential hypertension, genetic
Health Risk
RS139685563
Conflicting classifications of pathogenicity
Renal tubular dysgenesis, Renal tubular dysgenesis
Health Risk
RS141762950
Conflicting classifications of pathogenicity
Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
Health Risk
RS147721058
Conflicting classifications of pathogenicity
Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
Health Risk
RS1805090
Conflicting classifications of pathogenicity
Renal tubular dysgenesis, AGT-related disorder, Renal tubular dysgenesis of genetic origin
Health Risk
RS199476082
Conflicting classifications of pathogenicity
Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis
Health Risk
RS201777691
Conflicting classifications of pathogenicity
Renal tubular dysgenesis, Renal tubular dysgenesis
Health Risk
RS2527714738
Conflicting classifications of pathogenicity
Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
Health Risk
RS375261929
Conflicting classifications of pathogenicity
Health Risk
RS387906578
Conflicting classifications of pathogenicity
Renal tubular dysgenesis, Large fontanelles, Anhydramnios
Health Risk
RS41271499
Conflicting classifications of pathogenicity
Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112711075 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin |
| RS13306155 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Essential hypertension, genetic |
| RS139685563 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Renal tubular dysgenesis |
| RS141762950 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin |
| RS147721058 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin |
| RS1805090 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, AGT-related disorder, Renal tubular dysgenesis of genetic origin |
| RS199476082 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis |
| RS201777691 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Renal tubular dysgenesis |
| RS2527714738 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin |
| RS375261929 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS387906578 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Large fontanelles, Anhydramnios |
| RS41271499 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis |
| RS5041 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS537300845 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin |
| RS559327874 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis of genetic origin, Inborn genetic diseases, Renal tubular dysgenesis of genetic origin |
| RS56010258 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Renal tubular dysgenesis |
| RS562507867 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin |
| RS568010875 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Essential hypertension, genetic |
| RS573313754 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, AGT-related disorder, Renal tubular dysgenesis |
| RS753554545 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin |
| RS761670478 | Health Risk | Conflicting classifications of pathogenicity | Anhydramnios, Renal tubular dysgenesis of genetic origin, Essential hypertension |
| RS764314612 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin |
| RS771576624 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Essential hypertension, genetic |
| RS886046083 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Inborn genetic diseases, Renal tubular dysgenesis |
| RS2102791328 | Health Risk | Likely pathogenic | Anhydramnios, Large fontanelles, Anhydramnios |
| RS776421645 | Health Risk | Likely pathogenic | Renal tubular dysgenesis, Renal tubular dysgenesis |
| RS121912702 | Health Risk | Pathogenic | Renal tubular dysgenesis, Renal tubular dysgenesis |
| RS2527717700 | Health Risk | Pathogenic | — |
| RS74315283 | Health Risk | Pathogenic/Likely pathogenic | Renal tubular dysgenesis, Renal tubular dysgenesis |
| RS747815674 | Health Risk | Pathogenic/Likely pathogenic | Essential hypertension, genetic, Renal tubular dysgenesis of genetic origin |
| RS778806374 | Health Risk | Pathogenic/Likely pathogenic | Essential hypertension, genetic, Renal tubular dysgenesis of genetic origin |