Variant Summary
- Also known as
- G104G (C.312C>G)
- HGVS
- NC_000003.11:g.10183843C>G,NC_000003.12:g.10142159C>G,NP_000542.1:p.Gly104=,NP_001341652.1:p.Gly104=
- 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 = G104= (c.312C>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Von Hippel-Lindau Disease | 1 |