A149S (p.Ala149Ser) variant of VHL (P40337)
A149S (p.Ala149Ser) 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.
A149S (p.Ala149Ser) variant details
- p.Ala149Ser
- rs587780077
- Civic 820
- ClinGen CA020355
- ClinVar RCV000115746
- 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: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)