Variant Summary
- Also known as
- P86AFS*46
- HGVS
- NC_000003.11:g.10183785_10183786insC,NM_000551.3:c.254_255insC,NC_000003.12:g.10142101_10142102insC,NP_000542.1:p.Pro86fs
- Variant Type(s)
- plus_1_frameshift_variant,frameshift_truncation
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = P86fs (c.254_255insC).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 |