C388F (p.Cys388Phe) variant of WT1 (Wilms tumor protein)
C388F (p.Cys388Phe) 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.
C388F (p.Cys388Phe) variant details
- p.Cys388Phe
- UniProt VAR 015059
- Pathogenic
- in DDS
- Missense
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: Constitutional WT1 correlate with clinical features in children with progressive nephropathy. (PMID 11182928)
- Cited in: Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (PMID 10738002)