Variant Summary
- Also known as
- PRO25LEU,C.74C>T,RS35460768
- HGVS
- NM_000551.3:c.74C>T,NP_000542.1:p.Pro25Leu,ENST00000256474.2:c.74C>T,NC_000003.11:g.10183605C>T
- 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 = P25L (c.74C>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |