Variant Summary
- Also known as
- C.331DELA,SER111FS
- HGVS
- NC_000003.12:g.10142178del,NC_000003.11:g.10183862del,NM_000551.3:c.331del,NM_198156.2:c.331del,NP_937799.1:p.Ser111AlafsTer7,NM_001354723.1:c.331del,NP_001341652.1:p.Ser111AlafsTer6,ENST00000256474.2:c.331del
- Variant Type(s)
- frameshift_truncation
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = S111FS (c.331delA).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 |