Variant Summary
- Also known as
- CYS2488TYR,RS774281788
- HGVS
- NM_000051.3:c.7463G>A,NP_000042.3:p.Cys2488Tyr,NC_000011.9:g.108201096G>A,ENST00000278616.4:c.7463G>A
- Variant Type(s)
- missense_variant
- Evidence Items
- 1
Evidence Level Distribution
Level D: 1
Evidence Items
Showing CIViC evidence rows where gene = ATM and variant = C2488Y.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Predictive | Supports | Resistance | Chronic Lymphocytic Leukemia | Doxorubicin | 3 |