Variant Summary
- Also known as
- PRO59FS,C.173_174INSC
- HGVS
- ENST00000256474.2:c.173_174insC,NP_000542.1:p.Pro59AlafsTer73,NM_000551.3:c.173_174insC,NC_000003.11:g.10183704_10183705insC
- Variant Type(s)
- frameshift_truncation,plus_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.173_174insC).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |