Variant Summary
- Also known as
- C.642A>G,TER214TRP,NM_000551:*214WEXT*14
- HGVS
- NM_000551.3:c.642A>G,NP_000542.1:p.Ter214Trp,ENST00000256474.2:c.642A>G,NC_000003.11:g.10191649A>G
- 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 = *214W (c.642A>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |