Variant Summary
- Also known as
- C.496G>T,VAL166PHE,RS104893825
- HGVS
- NM_000551.3:c.496G>T,NP_000542.1:p.Val166Phe,NC_000003.11:g.10191503G>T,ENST00000256474.2:c.496G>T
- Variant Type(s)
- missense_variant
- Evidence Items
- 3
Evidence Level Distribution
Level C: 3
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = V166F (c.496G>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |