Variant Summary
- Also known as
- C.525C>G,Y175X,TYR175TER,RS5030835
- HGVS
- ENST00000256474.2:c.525C>G,NC_000003.11:g.10191532C>G,NM_000551.3:c.525C>G,NP_000542.1:p.Tyr175Ter
- Variant Type(s)
- stop_gained
- Evidence Items
- 4
Evidence Level Distribution
Level C: 4
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Y175* (c.525C>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 2 |