Variant Summary
- Also known as
- C.433C>T,Q145X,GLN145TER
- HGVS
- ENST00000256474.2:c.433C>T,NC_000003.11:g.10188290C>T,NM_000551.3:c.433C>T,NP_000542.1:p.Gln145Ter
- 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 = Q145* (c.433C>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |