R394Q (p.Arg394Gln) variant of WT1 (Wilms tumor protein)
R394Q (p.Arg394Gln) 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 WT1-related Wilms tumor; Kidney disorder; Frasier syndrome. The record also includes published literature.
R394Q (p.Arg394Gln) variant details
- p.Arg394Gln
- UniProt VAR 015061
- Pathogenic/Likely pathogenic
- WT1-related Wilms tumor; Kidney disorder; Frasier syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (WT1-related Wilms tumor; Kidney disorder; Frasier syndrome)
- EBI: Pathogenic (in DDS and NPHS4)
- UniProt: Pathogenic (in DDS and NPHS4)
- Cited in: Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. (PMID 20798252)
- Cited in: Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of… (PMID 9529364)