Variant Summary
- Also known as
- C.332G>A,SER111ASN,RS869025631
- HGVS
- NM_000551.3:c.332G>A,NP_000542.1:p.Ser111Asn,NC_000003.11:g.10183863G>A,ENST00000256474.2:c.332G>A
- 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 = S111N (c.332G>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Von Hippel-Lindau Disease | 3 | |||
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |