Variant Summary
- Also known as
- S111C (C.330_331CA>TT)
- HGVS
- NP_000542.1:p.Ser111Cys,NP_001341652.1:p.Ser111Cys,NC_000003.11:g.10183861_10183862delinsTT,NC_000003.12:g.10142177_10142178delinsTT
- Variant Type(s)
- delins
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = S111C (c.330_331delinsTT).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |