Variant Summary
- Also known as
- SER80ARG,C.238A>C,RS786202787
- HGVS
- ENST00000256474.2:c.238A>C,NC_000003.11:g.10183769A>C,NM_000551.3:c.238A>C,NP_000542.1:p.Ser80Arg
- Variant Type(s)
- missense_variant
- Evidence Items
- 4
Evidence Level Distribution
Level C: 4
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = S80R (c.238A>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |