R366L (p.Arg366Leu) variant of WT1 (Wilms tumor protein)
R366L (p.Arg366Leu) 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.
R366L (p.Arg366Leu) variant details
- p.Arg366Leu
- UniProt VAR 043802
- Pathogenic
- in DDS
- Missense
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: A newly identified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome. (PMID 8741319)
- Cited in: Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (PMID 10738002)