Variant Summary
- Also known as
- ILE75FS,C.224DUPT,C.223_224INST
- HGVS
- NC_000003.11:g.10183755dupT,NM_000551.3:c.224dupT,NP_000542.1:p.F76Lfs*56,NC_000003.12:g.10142071dupT,NP_937799.1:p.Phe76LeufsTer?,NP_001341652.1:p.Phe76LeufsTer?
- Variant Type(s)
- frameshift_truncation
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = F76fs (c.223_224insT).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |