Variant Summary
- Also known as
- RS1553620313,C.484T>C,CYS162ARG
- HGVS
- ENST00000256474.2:c.484T>C,NM_000551.3:c.484T>C,NC_000003.11:g.10191491T>C,NP_000542.1:p.Cys162Arg
- 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 = C162R (c.484T>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |