Variant Summary
- Also known as
- PRO59FS,C.176DELC,P59RFS*8 (C.176DELC)
- HGVS
- ENST00000256474.2:c.176delC,NC_000003.11:g.10183707del,NM_000551.3:c.176del,NP_000542.1:p.Pro59ArgfsTer8
- 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 = P59fs (c.176delC).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 |