Variant Summary
- Also known as
- C.533T>A,LEU178GLN,RS5030822
- HGVS
- NC_000003.11:g.10191540T>A,NM_000551.3:c.533T>A,NP_000542.1:p.Leu178Gln,ENST00000256474.2:c.533T>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 = L178Q (c.533T>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Von Hippel-Lindau Disease | 3 | |||
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |