Variant Summary
- Also known as
- X214G,TER214GLY,C.640T>G,X > GLY + 14AA
- HGVS
- ENST00000256474.2:c.640T>G,NM_000551.3:c.640T>G,NP_000542.1:p.Ter214Gly,ENSP00000256474.2:p.Ter214Gly
- 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 = *214G (c.640T>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Von Hippel-Lindau Disease | 2 |