Q164R (p.Gln164Arg) variant of VHL (P40337)
Q164R (p.Gln164Arg) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing. The record also includes published literature and structural context.
Q164R (p.Gln164Arg) variant details
- p.Gln164Arg
- NCI-TCGA Cosmic COSV5654
- NCI-TCGA Cosmic COSV5655
- Pathogenic
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- ClinVar: Pathogenic (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Genotype-phenotype correlations in von Hippel-Lindau disease. (PMID 17024664)
- Cited in: Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R. (PMID 20583150)