Variant Summary
- Also known as
- C.555C>G,Y185X,TYR185TER,RS864622109
- HGVS
- NM_000551.3:c.555C>G,NP_000542.1:p.Tyr185Ter,NC_000003.11:g.10191562C>G,ENST00000256474.2:c.555C>G
- 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 = Y185* (c.555C>G).
| 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 |