Variant Summary
- Also known as
- Y641N,TYR646ASN,TYR641ASN
- HGVS
- NC_000007.14:g.148811636A>T,NC_000007.13:g.148508728A>T,ENST00000320356.7:c.1936T>A,ENSP00000320147.2:p.Tyr646Asn,NM_004456.5:c.1936T>A,NP_004447.2:p.Tyr646Asn,NM_001203247.2:c.1921T>A,NP_001190176.1:p.Tyr641Asn,ENST00000460911.5:c.1921T>A,ENSP00000419711.1:p.Tyr641Asn
- Variant Type(s)
- missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level D: 2
Evidence Items
Showing CIViC evidence rows where gene = EZH2 and variant = Y646N.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Functional | Supports | Gain of Function | 3 | ||
| D | Functional | Supports | Loss of Function | 3 |