Variant Summary
- Also known as
- C.556G>T,E186X,GLU186TER,RS367545984
- HGVS
- NM_000551.3:c.556G>T,NP_000542.1:p.Glu186Ter,NC_000003.11:g.10191563G>T,ENST00000256474.2:c.556G>T
- 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 = E186* (c.556G>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 |