D396N (p.Asp396Asn) variant of WT1 (Wilms tumor protein)
D396N (p.Asp396Asn) in WT1 (Wilms tumor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Wilms tumor 1; 11p partial monosomy syndrome; Frasier syndrome. The record also includes published literature.
D396N (p.Asp396Asn) variant details
- p.Asp396Asn
- UniProt VAR 007751
- Pathogenic/Likely pathogenic
- Wilms tumor 1; 11p partial monosomy syndrome; Frasier syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Wilms tumor 1; 11p partial monosomy syndrome; Frasier syndrome)
- EBI: Pathogenic (in DDS and NPHS4)
- UniProt: Pathogenic (in DDS and NPHS4)
- Cited in: Constitutional WT1 correlate with clinical features in children with progressive nephropathy. (PMID 11182928)
- Cited in: Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. (PMID 8388765)