Variant Summary
- Also known as
- Q73X,C.217C>T,GLN73TER,RS869025619
- HGVS
- NM_000551.3:c.217C>T,NP_000542.1:p.Gln73Ter,NC_000003.11:g.10183748C>T,ENST00000256474.2:c.217C>T
- Variant Type(s)
- stop_gained
- Evidence Items
- 3
Evidence Level Distribution
Level C: 3
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Q73* (c.217C>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |