Variant Summary
- Also known as
- C.526DELA,ARG176FS,RS1559429711,R176GFS*26 (C.526DEL)
- HGVS
- ENST00000256474.2:c.526delA,NC_000003.11:g.10191533del,NM_000551.3:c.526del,NP_000542.1:p.Arg176GlyfsTer26
- Variant Type(s)
- frameshift_truncation
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = R176fs (c.526del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |