Variant Summary
- Also known as
- C.165DUP,C.165_166DUPG,A56GFS*76 (C.166DUP)
- HGVS
- NP_000542.1:p.Ala56fs,NC_000003.11:g.10183697dup,NC_000003.12:g.10142013dup,NM_000551.3:c.166dup
- 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 = A56fs (c.166dup).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Von Hippel-Lindau Disease | 3 |