Variant Summary
- Also known as
- C.261DUP,C.261INSA,TRP88METFSTER44,W88MFS*44
- HGVS
- NC_000003.11:g.10183792dup,NM_000551.3:c.261dup,NP_000542.1:p.Trp88MetfsTer44,ENST00000256474.3:c.261dup,NC_000003.12:g.10142108dup
- Variant Type(s)
- plus_1_frameshift_variant,frameshift_truncation
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = W88fs (c.261dup).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |