Variant Summary
- Also known as
- C.286C>T,Q96X,GLN96TER,RS1131690959
- HGVS
- NM_000551.3:c.286C>T,NP_000542.1:p.Gln96Ter,NC_000003.11:g.10183817C>T,ENST00000256474.2:c.286C>T
- Variant Type(s)
- stop_gained
- Evidence Items
- 3
Evidence Level Distribution
Level C: 3
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Q96* (c.286C>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |