Variant Summary
- Also known as
- C.163DELG,GLU55ARGFS
- HGVS
- NP_000542.1:p.Glu55fs,NP_000542.1:p.Glu55ArgfsTer11,NM_000551.2:c.163delG,NC_000003.11:g.10183694del,ENST00000256474.2:c.163delG
- 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 = E55RfsTer11 (c.163delG).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |