Annotation Detail
Information
- Associated Genes
- AGTR1
- Associated Variants
-
AGTR1 c.*86A>C
(
ENST00000349243.8,
ENST00000402260.2,
ENST00000404754.2,
ENST00000418473.7,
ENST00000461609.1,
ENST00000474935.5,
ENST00000475347.5,
ENST00000497524.5 )
AGTR1 c.*86A>C ( ENST00000349243.8, ENST00000402260.2, ENST00000404754.2, ENST00000418473.7, ENST00000461609.1, ENST00000474935.5, ENST00000475347.5, ENST00000497524.5 ) - Associated Disease
- Essential hypertension, genetic Renal tubular dysgenesis of genetic origin
- Source Database
- ClinVar
- Description
- NM_000685.5(AGTR1):c.*86A>C AND multiple conditions
- ClinVar Allele ID
- 33104
- ClinVar RefSeq Alternation Syntax
- NM_004835.5:c.*86A>C
- ClinVar RefSeq Alternation Syntax
- NM_032049.4:c.*86A>C
- ClinVar RefSeq Alternation Syntax
- NM_000685.5:c.*86A>C
- ClinVar RefSeq Alternation Syntax
- NM_031850.4:c.*86A>C
- ClinVar RefSeq Alternation Syntax
- NM_009585.4:c.*86A>C
- ClinVar RefSeq Alternation Syntax
- NM_001382736.1:c.*86A>C
- ClinVar RefSeq Alternation Syntax
- NM_001382737.1:c.*86A>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2021-08-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002482889
- ClinVar Disease
- Essential hypertension, genetic
- ClinVar Disease
- Renal tubular dysgenesis of genetic origin
- Observed Origin Sample
- unknown
Drugs