Variant Summary
- Also known as
- C.491A>G,GLN164ARG,RS267607170
- HGVS
- NM_000551.3:c.491A>G,NP_000542.1:p.Gln164Arg,NC_000003.11:g.10191498A>G,ENST00000256474.2:c.491A>G
- Variant Type(s)
- missense_variant
- Evidence Items
- 3
Evidence Level Distribution
Level C: 3
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Q164R (c.491A>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |