C388R (p.Cys388Arg) variant of WT1 (Wilms tumor protein)
C388R (p.Cys388Arg) 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 WT1-related disorder. The record also includes published literature.
C388R (p.Cys388Arg) variant details
- p.Cys388Arg
- UniProt VAR 043805
- Likely pathogenic
- WT1-related disorder
- Missense
- ClinVar: Likely pathogenic (WT1-related disorder)
- EBI: Pathogenic (in NPHS4)
- UniProt: Pathogenic (in NPHS4)
- Cited in: Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic… (PMID 15253707)
- Cited in: Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. (PMID 20798252)