Variant Summary
- Also known as
- VAL181FS,C.540_543DELCGTC,RS869025664
- HGVS
- NC_000003.11:g.10191547_10191550del,NC_000003.12:g.10149863_10149866del,NM_000551.3:c.540_543del,NP_000542.1:p.Val181fs
- 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 = V181fs (c.540_543del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |