Variant Summary
- Also known as
- N150IFS*9,N150FS (C.448DELA)
- HGVS
- NM_000551.3:c.449del,NP_000542.1:p.Asn150IlefsTer9,NC_000003.12:g.10146622del,NC_000003.11:g.10188306del
- 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 = N150fs (c.449del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |