Annotation Detail
Information
- Associated Genes
- AGT
- Associated Variants
-
AGT p.Met259Thr (p.M259T)
(
ENST00000679957.1,
ENST00000681514.1,
ENST00000680041.1,
ENST00000680783.1,
ENST00000681269.1,
ENST00000679684.1,
ENST00000366667.6 )
AGT p.Met259Thr (p.M259T) ( ENST00000366667.6, ENST00000679684.1, ENST00000679957.1, ENST00000680041.1, ENST00000680783.1, ENST00000681269.1, ENST00000681514.1 ) - Associated Disease
- Renal tubular dysgenesis
- Source Database
- ClinVar
- Description
- NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND Renal tubular dysgenesis
- ClinVar Allele ID
- 33107
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000405686
- ClinVar Disease
- Renal tubular dysgenesis
- Observed Origin Sample
- germline
Drugs