Variant Summary
- Also known as
- GLU55GLU,C.165G>A,RS1553619391,GLU55=,E55E (C.165G>A)
- HGVS
- NM_000551.2:c.165G>A,NC_000003.11:g.10183696G>A,ENST00000256474.2:c.165G>A,NP_000542.1:p.Glu55=
- Variant Type(s)
- synonymous_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = E55= (c.165G>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |