Variant Summary
- Also known as
- C.468T>G,Y156X,TYR156TER
- HGVS
- ENST00000256474.2:c.468T>G,NC_000003.11:g.10191475T>G,NM_000551.3:c.468T>G,NP_000542.1:p.Tyr156Ter
- Variant Type(s)
- stop_gained
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Y156* (c.468T>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |