R366H (p.Arg366His) variant of WT1 (Wilms tumor protein)
R366H (p.Arg366His) 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.
R366H (p.Arg366His) variant details
- p.Arg366His
- UniProt VAR 007746
- 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 DDS and WT1)
- UniProt: Pathogenic (in DDS and WT1)
- Cited in: Constitutional WT1 correlate with clinical features in children with progressive nephropathy. (PMID 11182928)
- Cited in: Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms… (PMID 15150775)