C162F (p.Cys162Phe) variant of VHL (P40337)
C162F (p.Cys162Phe) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia. The record also includes population frequency data, published literature, and structural context.
C162F (p.Cys162Phe) variant details
- p.Cys162Phe
- rs2470170739
- ClinGen CA2740090901
- ClinVar RCV003812589
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia
- Missense
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Population evidence available
- Structural context available
- Cited in: Mechanism of regulation of the hypoxia-inducible factor-1 alpha by the von Hippel-Lindau tumor suppressor protein. (PMID 10944113)
- Cited in: Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. (PMID 8956040)