Variant Summary
- Also known as
- C.320G>A,ARG107HIS,RS193922609
- HGVS
- NM_000551.3:c.320G>A,NP_000542.1:p.Arg107His,NC_000003.11:g.10183851G>A,ENST00000256474.2:c.320G>A
- 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 = R107H (c.320G>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 |