Variant Summary
- Also known as
- C.642A>T,X214C,TER214CYS,RS1559430011
- HGVS
- ENST00000256474.2:c.642A>T,NC_000003.11:g.10191649A>T,NM_000551.3:c.642A>T,NP_000542.1:p.Ter214Cys
- Variant Type(s)
- stop_lost
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = *214C (c.642A>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |