Variant Summary
- Also known as
- C.388G>C,VAL130LEU,RS104893830
- HGVS
- NM_000551.3:c.388G>C,NP_000542.1:p.Val130Leu,NC_000003.11:g.10188245G>C,ENST00000256474.2:c.388G>C
- 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 = V130L (c.388G>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |