H377R (p.His377Arg) variant of WT1 (Wilms tumor protein)
H377R (p.His377Arg) 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.
H377R (p.His377Arg) variant details
- p.His377Arg
- UniProt VAR 015057
- Pathogenic
- in DDS
- Missense
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin. (PMID 8112732)
- Cited in: Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (PMID 10738002)