R394P (p.Arg394Pro) variant of WT1 (Wilms tumor protein)
R394P (p.Arg394Pro) in WT1 (Wilms tumor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of WT1-related disorder. The record also includes published literature.
R394P (p.Arg394Pro) variant details
- p.Arg394Pro
- UniProt VAR 043808
- Pathogenic
- WT1-related disorder
- Missense
- ClinVar: Pathogenic (WT1-related disorder)
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- 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)