E12L (p.Glu12Leu) variant of VHL (P40337)
E12L (p.Glu12Leu) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chuvash polycythemia; not provided; Von Hippel-Lindau syndrome. The record also includes published literature and structural context.
E12L (p.Glu12Leu) variant details
- p.Glu12Leu
- rs1696115662
- ClinGen CA1139655721
- ClinVar RCV001206074
- ClinVar RCV001586049
- Uncertain significance
- Chuvash polycythemia; not provided; Von Hippel-Lindau syndrome
- Missense
- ClinVar: Uncertain significance (Chuvash polycythemia; not provided; Von Hippel-Lindau syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)