Variant Summary
- Also known as
- GLU52LYS,C.154G>A,RS373068386
- HGVS
- NM_000551.3:c.154G>A,NP_000542.1:p.Glu52Lys,NC_000003.11:g.10183685G>A,ENST00000256474.2:c.154G>A
- Variant Type(s)
- missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = E52K (c.154G>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |