R366C (p.Arg366Cys) variant of WT1 (Wilms tumor protein)
R366C (p.Arg366Cys) in WT1 (Wilms tumor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome. The record also includes published literature.
R366C (p.Arg366Cys) variant details
- p.Arg366Cys
- UniProt VAR 007745
- Pathogenic
- Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome
- Missense
- ClinVar: Pathogenic (Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome)
- EBI: Pathogenic (in WT1, DDS and MEACHS)
- UniProt: Pathogenic (in WT1, DDS and MEACHS)
- Cited in: Zinc finger point mutations within the WT1 gene in Wilms tumor patients. (PMID 1317572)
- Cited in: Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms… (PMID 15150775)