Variant Summary
- Also known as
- C.344A>C,HIS115PRO,RS5030812
- HGVS
- ENST00000256474.2:c.344A>C,NC_000003.11:g.10188201A>C,NM_000551.3:c.344A>C,NP_000542.1:p.His115Pro
- 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 = H115P (c.344A>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |