Variant Summary
- HGVS
- NC_000003.11:g.10188249A>G,NC_000003.12:g.10146565A>G,NP_000542.1:p.Asn131Ser
- 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 = N131S (c.392A>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |