Variant Summary
- Also known as
- C.256C>G,PRO86ALA,RS398123481
- HGVS
- NM_000551.3:c.256C>G,NP_000542.1:p.Pro86Ala,NC_000003.11:g.10183787C>G,ENST00000256474.2:c.256C>G
- 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 = P86A (c.256C>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 2 |