Variant Summary
- Also known as
- C.475DELA,LYS159FS,E160SFS*10
- HGVS
- ENST00000256474.2:c.475del,NP_000542.1:p.Glu160SerfsTer10,NM_000551.3:c.477del,NC_000003.12:g.10149800del,NC_000003.11:g.10191484del
- 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 = E160fs (c.477del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |