Variant Summary
- Also known as
- LYS159FS,C.477_478INSCA
- HGVS
- ENST00000256474.2:c.477_478insCA
- Variant Type(s)
- frameshift_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = K159fs (c.477_478insCA).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |