Variant Summary
- Also known as
- C.538A>G,ILE180VAL,RS377715747
- HGVS
- NM_000551.3:c.538A>G,NP_000542.1:p.Ile180Val,NC_000003.11:g.10191545A>G,ENST00000256474.2:c.538A>G
- Variant Type(s)
- missense_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = I180V (c.538A>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |