Variant Summary
- Also known as
- C.482G>A,ARG161GLN,RS730882035
- HGVS
- NM_000551.3:c.482G>A,NP_000542.1:p.Arg161Gln,NC_000003.11:g.10191489G>A,ENST00000256474.2:c.482G>A
- Variant Type(s)
- missense_variant
- Evidence Items
- 10
Evidence Level Distribution
Level C: 10
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = R161Q (c.482G>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Von Hippel-Lindau Disease | 3 | |||
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |