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