Variant Summary
- Also known as
- C.334T>C,TYR112HIS,RS104893824
- HGVS
- NM_000551.3:c.334T>C,NP_000542.1:p.Tyr112His,NC_000003.11:g.10183865T>C,ENST00000256474.2:c.334T>C
- 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 = Y112H (c.334T>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |