Variant Summary
- Also known as
- C.548C>A,S183X,SER183TER,RS5030823
- HGVS
- NM_000551.3:c.548C>A,NP_000542.1:p.Ser183Ter,NC_000003.11:g.10191555C>A,ENST00000256474.2:c.548C>A
- Variant Type(s)
- stop_gained
- Evidence Items
- 3
Evidence Level Distribution
Level C: 3
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = S183* (c.548C>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Renal Cell Carcinoma | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 1 |