Variant Summary
- Also known as
- C.462A>C,PRO154PRO,P154P (C.462A>C)
- HGVS
- ENST00000256474.2:c.462A>C,NC_000003.11:g.10188319A>C,NM_000551.3:c.462A>C,NP_000542.1:p.Pro154=
- Variant Type(s)
- synonymous_variant
- Evidence Items
- 3
Evidence Level Distribution
Level C: 3
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = P154= (c.462A>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 1 |