Variant Summary
- Also known as
- TYR646CYS,Y641C,TYR641CYS
- HGVS
- NC_000007.14:g.148811635T>C,NC_000007.13:g.148508727T>C,ENST00000320356.7:c.1937A>G,ENSP00000320147.2:p.Tyr646Cys,NM_004456.5:c.1937A>G,NP_004447.2:p.Tyr646Cys
- Variant Type(s)
- missense_variant
- Evidence Items
- 1
Evidence Level Distribution
Level D: 1
Evidence Items
Showing CIViC evidence rows where gene = EZH2 and variant = Y646C.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Functional | Supports | Loss of Function | 2 |