Variant Summary
- Also known as
- C.273C>G,PHE91LEU
- HGVS
- NC_000003.11:g.10183804C>G,NC_000003.12:g.10142120C>G,NP_000542.1:p.Phe91Leu
- Variant Type(s)
- missense_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = F91L (c.273C>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Von Hippel-Lindau Disease | 2 |