D396Y (p.Asp396Tyr) variant of WT1 (Wilms tumor protein)
D396Y (p.Asp396Tyr) in WT1 (Wilms tumor protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DDS. The record also includes published literature.
D396Y (p.Asp396Tyr) variant details
- p.Asp396Tyr
- UniProt VAR 043809
- Pathogenic
- in DDS
- Missense
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (PMID 10738002)
- Cited in: A novel missense mutation of the Wt1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations. (PMID 10799199)