Variant Summary
- Also known as
- C.407T>C,PHE136SER,RS5030833
- HGVS
- ENST00000256474.2:c.407T>C,NC_000003.11:g.10188264T>C,NM_000551.3:c.407T>C,NP_000542.1:p.Phe136Ser
- Variant Type(s)
- missense_variant
- Evidence Items
- 7
Evidence Level Distribution
Level C: 7
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = F136S (c.407T>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 | |
| 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 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 1 |