Variant Summary
- Also known as
- HIS115GLN,C.345C>G,RS864622646
- HGVS
- ENST00000256474.2:c.345C>G,NC_000003.11:g.10188202C>G,NM_000551.3:c.345C>G,NP_000542.1:p.His115Gln
- Variant Type(s)
- missense_variant
- Evidence Items
- 3
Evidence Level Distribution
Level C: 3
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = H115Q (c.345C>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Von Hippel-Lindau Disease | 3 | |||
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |