Variant Summary
- Also known as
- C.263_265DELGGCINSTT,TRP88FS
- HGVS
- ENST00000256474.2:c.263_265delGGCinsTT,NC_000003.11:g.10183794_10183796delinsTT,NM_000551.3:c.263_265delinsTT,NP_000542.1:p.Trp88PhefsTer?
- Variant Type(s)
- frameshift_variant,delins
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = W88FS (c.263_265delGGCinsTT).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |