Variant Summary
- Also known as
- C.362A>G,ASP121GLY,RS5030832
- HGVS
- NM_000551.3:c.362A>G,NP_000542.1:p.Asp121Gly,NC_000003.11:g.10188219A>G,ENST00000256474.2:c.362A>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 = D121G (c.362A>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| 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 |