H401Y (p.His401Tyr) variant of WT1 (Wilms tumor protein)
H401Y (p.His401Tyr) in WT1 (Wilms tumor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes published literature.
H401Y (p.His401Tyr) variant details
- p.His401Tyr
- UniProt VAR 043811
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: A novel zinc finger mutation in a patient with Denys-Drash syndrome. (PMID 8111391)
- Cited in: Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (PMID 10738002)