Variant Summary
- Also known as
- ALA149SER,C.445G>T,RS587780077
- HGVS
- NP_000542.1:p.Ala149Ser,NM_000551.2:c.445G>T,ENST00000256474.2:c.445G>T,NC_000003.11:g.10188302G>T
- 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 = A149S (c.445G>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |