Variant Summary
- Also known as
- C.395A>C,GLN132PRO,RS1347416980
- HGVS
- ENST00000256474.2:c.395A>C,NC_000003.11:g.10188252A>C,NM_000551.3:c.395A>C,NP_000542.1:p.Gln132Pro
- Variant Type(s)
- missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Q132P (c.395A>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Von Hippel-Lindau Disease | 3 |