Variant Summary
- Also known as
- GLU160FS,C.479_480DELAG,G160AFS*13,C.477_478DEL
- HGVS
- ENST00000256474.2:c.479_480delAG,NC_000003.11:g.10191486_10191487delAG,NM_000551.3:c.479_480delAG,NP_000542.1:p.Glu160AlafsTer13
- Variant Type(s)
- frameshift_truncation,minus_2_frameshift_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = E160fs (c.479_480delAG).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |