Variant Summary
- Also known as
- C.383T>G,LEU128ARG
- HGVS
- ENST00000256474.2:c.383T>G,NC_000003.11:g.10188240T>G,NM_000551.3:c.383T>G,NP_000542.1:p.Leu128Arg
- Variant Type(s)
- missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = L128R (c.383T>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 | 3 |