D396G (p.Asp396Gly) variant of WT1 (Wilms tumor protein)
D396G (p.Asp396Gly) 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 Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome. The record also includes published literature.
D396G (p.Asp396Gly) variant details
- p.Asp396Gly
- UniProt VAR 007752
- Likely pathogenic
- Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome
- Missense
- ClinVar: Likely pathogenic (Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome)
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (PMID 10738002)
- Cited in: A novel missense mutation of the Wt1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations. (PMID 10799199)