Variant Summary
- Also known as
- C.263G>C,TRP88SER,RS119103277
- HGVS
- NM_000551.3:c.263G>C,NP_000542.1:p.Trp88Ser,NC_000003.11:g.10183794G>C,ENST00000256474.2:c.263G>C
- 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 = W88S (c.263G>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 |