Variant Summary
- Also known as
- C.551T>G,LEU184ARG
- HGVS
- ENST00000256474.2:c.551T>G,NC_000003.11:g.10191558T>G,NM_000551.3:c.551T>G,NP_000542.1:p.Leu184Arg
- Variant Type(s)
- missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = L184R (c.551T>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 1 |