C360G (p.Cys360Gly) variant of WT1 (Wilms tumor protein)
C360G (p.Cys360Gly) 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.
C360G (p.Cys360Gly) variant details
- p.Cys360Gly
- UniProt VAR 007744
- Pathogenic
- in DDS
- Missense
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. (PMID 8388765)
- Cited in: Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (PMID 10738002)