Variant Summary
- Also known as
- C.309_310DELTG,PRO103FS
- HGVS
- ENST00000256474.2:c.309_310delTG,NC_000003.11:g.10183840_10183841del,NM_000551.3:c.309_310del,NP_000542.1:p.Gly104HisfsTer27
- Variant Type(s)
- frameshift_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = P103FS (c.309_310delTG).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |