Variant Summary
- Also known as
- G144FFS*26,C.428_438DEL
- HGVS
- NC_000003.12:g.10146602_10146612del,NC_000003.11:g.10188286_10188296del,NM_000551.3:c.429_439del,NP_000542.1:p.Gly144PhefsTer26
- Variant Type(s)
- frameshift_truncation,minus_2_frameshift_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = G144fs (c.429_439del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |