Variant Summary
- Also known as
- C.436DELC,PRO146FS,C.437DELC,P146LFS*13
- HGVS
- NC_000003.12:g.10146610del,ENST00000256474.2:c.437del,NC_000003.11:g.10188294del,NM_000551.3:c.437del,NP_000542.1:p.Pro146LeufsTer13
- Variant Type(s)
- frameshift_truncation,minus_1_frameshift_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = P146fs (c.437del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |