Variant Summary
- Also known as
- R161R (C.481C>A)
- HGVS
- NC_000003.11:g.10191488C>A,NC_000003.12:g.10149804C>A,NP_000542.1:p.Arg161=
- Variant Type(s)
- synonymous_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = R161= (c.481C>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |