Variant Summary
- Also known as
- Q132FS (C.395DELA),T133LFS*26
- HGVS
- NC_000003.11:g.10188254del,NP_000542.1:p.Thr133fs,NC_000003.12:g.10146570del,NM_000551.4:c.397del,NP_000542.1:p.Thr133LeufsTer26
- Variant Type(s)
- minus_1_frameshift_variant,frameshift_truncation
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = T133fs (c.397del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |