Variant Summary
- Also known as
- R120NFS*40
- HGVS
- NC_000003.12:g.10146531_10146532insAC,NC_000003.11:g.10188215_10188216insAC,NM_000551.3:c.358_359insAC,NP_000542.1:p.Arg120AsnfsTer?
- Variant Type(s)
- frameshift_truncation,plus_2_frameshift_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = R120fs (c.358_359insAC).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |