Variant Summary
- Also known as
- C.194C>A,S65X,SER65TER,RS5030826
- HGVS
- NM_000551.3:c.194C>A,NP_000542.1:p.Ser65Ter,NC_000003.11:g.10183725C>A,ENST00000256474.2:c.194C>A
- Variant Type(s)
- stop_gained
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = S65* (c.194C>A).
| 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 |