Variant Summary
- Also known as
- TYR175FS,C.525DELC
- HGVS
- ENST00000256474.2:c.525delC,NP_000542.1:p.Tyr175Ter,NC_000003.11:g.10191532del,NM_000551.3:c.525del
- Variant Type(s)
- frameshift_truncation
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Y175* (c.525delC).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |