Variant Summary
- Also known as
- E189FS (C.565DELG),E189KFS*13 (C.565DEL),GLU189LYSFS*13
- HGVS
- NC_000003.11:g.10191572del,NC_000003.12:g.10149888del,NM_000551.4:c.565del,NP_000542.1:p.Glu189fs
- Variant Type(s)
- minus_1_frameshift_variant,frameshift_truncation
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = E189fs (c.565del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Von Hippel-Lindau Disease | 3 |