H377Y (p.His377Tyr) variant of WT1 (Wilms tumor protein)
H377Y (p.His377Tyr) 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.
H377Y (p.His377Tyr) variant details
- p.His377Tyr
- UniProt VAR 007748
- Pathogenic
- in NPHS4
- Missense
- EBI: Pathogenic (in NPHS4)
- UniProt: Pathogenic (in NPHS4)
- Cited in: Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of… (PMID 9529364)
- Cited in: Constitutional WT1 correlate with clinical features in children with progressive nephropathy. (PMID 11182928)