Variant Summary
- Also known as
- C.586A>T,K196X,LYS196TER,RS281860296
- HGVS
- NM_000551.3:c.586A>T,NP_000542.1:p.Lys196Ter,NC_000003.11:g.10191593A>T,ENST00000256474.2:c.586A>T
- Variant Type(s)
- stop_gained
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = K196* (c.586A>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |