G379C (p.Gly379Cys) variant of WT1 (Wilms tumor protein)
G379C (p.Gly379Cys) in WT1 (Wilms tumor protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NPHS4. The record also includes published literature.
G379C (p.Gly379Cys) variant details
- p.Gly379Cys
- UniProt VAR 043804
- Pathogenic
- in NPHS4
- Missense
- EBI: Pathogenic (in NPHS4)
- UniProt: Pathogenic (in NPHS4)
- Cited in: Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. (PMID 9607189)
- Cited in: Constitutional WT1 correlate with clinical features in children with progressive nephropathy. (PMID 11182928)