Variant Summary
- Also known as
- C.483DELA,CYS162FS,C162AFS*8
- HGVS
- NC_000003.11:g.10191490del,NP_000542.1:p.Cys162AlafsTer8,ENST00000256474.2:c.483del,NM_000551.3:c.483del,NC_000003.12:g.10149806del
- Variant Type(s)
- frameshift_truncation,minus_1_frameshift_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = C162fs (c.483del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |