Variant Summary
- Also known as
- C.357C>G,PHE119LEU,RS1559428077
- HGVS
- ENST00000256474.2:c.357C>G,NC_000003.11:g.10188214C>G,NM_000551.3:c.357C>G,NP_000542.1:p.Phe119Leu
- Variant Type(s)
- missense_variant
- Evidence Items
- 4
Evidence Level Distribution
Level C: 4
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = F119L (c.357C>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |