Variant Summary
- Also known as
- C.685INST
- HGVS
- NC_000003.11:g.10191478dup,NC_000003.12:g.10149794dup,NM_000551.3:c.471dup,NP_000542.1:p.Leu158SerfsTer16,ENST00000256474.2:c.471dup,ENSP00000256474.2:p.Leu158SerfsTer16
- 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 = L158fs (c.471dupT).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Von Hippel-Lindau Disease | 2 |