Variant Summary
- Also known as
- PRO138THR,C.412C>A
- HGVS
- ENST00000256474.2:c.412C>A,NC_000003.11:g.10188269C>A,NM_000551.3:c.412C>A,NP_000542.1:p.Pro138Thr
- 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 = P138T (c.412C>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 2 |