Variant Summary
- Also known as
- TRP117LEUFS,C.349DUPT
- HGVS
- NC_000003.11:g.10188206dup,ENST00000256474.2:c.349dupT,NM_000551.3:c.349dup,NP_000542.1:p.cTrp117LeufsTer15
- 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 = W117fs (c.349dup).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |