Variant Summary
- Also known as
- C.556G>A,GLU186LYS,RS367545984
- HGVS
- NM_000551.3:c.556G>A,NP_000542.1:p.Glu186Lys,NC_000003.11:g.10191563G>A,ENST00000256474.2:c.556G>A
- Variant Type(s)
- missense_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = E186K (c.556G>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |