Variant Summary
- Also known as
- SER111CYS,RS1559426203,C.331A>T
- HGVS
- NC_000003.11:g.10183862A>T,NM_000551.3:c.331A>T,NP_000542.1:p.Ser111Cys
- Variant Type(s)
- missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = S111C (c.331A>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Von Hippel-Lindau Disease | 3 |