Variant Summary
- Also known as
- C.217DELC,GLN73FS
- HGVS
- ENST00000256474.2:c.217delC,NC_000003.11:g.10183748del,NM_000551.3:c.217del,NP_000542.1:p.Gln73ArgfsTer?
- Variant Type(s)
- frameshift_truncation
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Q73FS (c.217delC).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |