Variant Summary
- Also known as
- C.404T>A,L135X,LEU135TER
- HGVS
- ENST00000256474.2:c.404T>A,NC_000003.11:g.10188261T>A,NM_000551.3:c.404T>A,NP_000542.1:p.Leu135Ter
- 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 = L135* (c.404T>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |