Variant Summary
- Also known as
- LEU118FS,RS869025641
- HGVS
- NC_000003.11:g.10188209_10188210insA,NC_000003.12:g.10146525_10146526insA,NM_000551.3:c.352_353insA,NP_000542.1:p.Leu118fs
- Variant Type(s)
- plus_1_frameshift_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = L118fs (c.352_353insA).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |