R394L (p.Arg394Leu) variant of WT1 (Wilms tumor protein)
R394L (p.Arg394Leu) in WT1 (Wilms tumor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Wilms tumor 1; Meacham syndrome; Nephrotic syndrome, type 4. The record also includes published literature.
R394L (p.Arg394Leu) variant details
- p.Arg394Leu
- UniProt VAR 043807
- Uncertain significance
- Wilms tumor 1; Meacham syndrome; Nephrotic syndrome, type 4
- Missense
- ClinVar: Uncertain significance (Wilms tumor 1; Meacham syndrome; Nephrotic syndrome, type 4)
- EBI: Pathogenic (in WT1)
- UniProt: Pathogenic (in WT1)
- Cited in: Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms… (PMID 15150775)
- Cited in: Zinc finger point mutations within the WT1 gene in Wilms tumor patients. (PMID 1317572)