Variant Summary
- Also known as
- GLU55TER
- HGVS
- ENST00000256474.2:c.163G>T,NC_000003.11:g.10183694G>T,NC_000003.12:g.10142010G>T,NM_000551.4:c.163G>T,NP_000542.1:p.Glu55Ter
- 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 = E55* (c.163G>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |