Variant Summary
- Also known as
- C.445DELG,ALA149FS
- HGVS
- ENST00000256474.2:c.445delG,NC_000003.11:g.10188302delG,NM_000551.3:c.445delG,NP_000542.1:p.Ala149ProfsTer10
- Variant Type(s)
- frameshift_variant,minus_1_frameshift_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = A149fs (c.445delG).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |