Variant Summary
- Also known as
- C.351G>T,TRP117CYS,RS727504215
- HGVS
- NM_000551.3:c.351G>T,NP_000542.1:p.Trp117Cys,NC_000003.11:g.10188208G>T,ENST00000256474.2:c.351G>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 = W117C (c.351G>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |