Variant Summary
- Also known as
- C.473INST,C.473DUPT
- HGVS
- NM_000551.3:c.473dup,NP_000542.1:p.Lys159GlufsTer15,ENST00000256474.2:c.473dup,ENSP00000256474.2:p.Lys159GlufsTer15,NC_000003.11:g.10191480dup,NC_000003.12:g.10149796dup
- Variant Type(s)
- frameshift_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = K159fs (c.473dup).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |