Variant Summary
- Also known as
- W88X,TRP88TER,C.263G>A,RS119103277
- HGVS
- NM_000551.3:c.263G>A,NP_000542.1:p.Trp88Ter,NC_000003.11:g.10183794G>A,ENST00000256474.2:c.263G>A
- 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 = W88* (c.263G>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |