F392L (p.Phe392Leu) variant of WT1 (Wilms tumor protein)
F392L (p.Phe392Leu) in WT1 (Wilms tumor protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FS. The record also includes published literature.
F392L (p.Phe392Leu) variant details
- p.Phe392Leu
- UniProt VAR 015060
- Pathogenic
- in FS
- Missense
- EBI: Pathogenic (in FS)
- UniProt: Pathogenic (in FS)
- Cited in: Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. (PMID 10571943)