Annotation Detail
Information
- Associated Genes
- AGT
- Associated Variants
-
AGT c.-30-3484G>A
(
ENST00000679957.1,
ENST00000681269.1,
ENST00000680783.1,
ENST00000679684.1 )
AGT c.-30-3484G>A ( ENST00000679684.1, ENST00000679957.1, ENST00000680783.1, ENST00000681269.1 ) - Associated Disease
- Renal tubular dysgenesis
- Source Database
- ClinVar
- Description
- NM_001382817.3(AGT):c.-30-3484G>A AND Renal tubular dysgenesis
- ClinVar Allele ID
- 279450
- ClinVar RefSeq Alternation Syntax
- NM_001382817.3:c.-30-3484G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000343947
- ClinVar Disease
- Renal tubular dysgenesis
- Observed Origin Sample
- germline
Drugs