C330Y (p.Cys330Tyr) variant of WT1 (Wilms tumor protein)
C330Y (p.Cys330Tyr) 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 and structural context.
C330Y (p.Cys330Tyr) variant details
- p.Cys330Tyr
- UniProt VAR 007743
- Pathogenic
- in DDS
- Missense
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Structural context available
- Cited in: Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. (PMID 1302008)
- Cited in: Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (PMID 10738002)