Variant Summary
- Also known as
- C.358A>G,ARG120GLY,RS869025642
- HGVS
- NM_000551.3:c.358A>G,NP_000542.1:p.Arg120Gly,NC_000003.11:g.10188215A>G,ENST00000256474.2:c.358A>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 = R120G (c.358A>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |