Variant Summary
- Also known as
- RS121912655
- HGVS
- NM_000546.5:c.725G>A,NP_000537.3:p.Cys242Tyr,NC_000017.10:g.7577556C>T,ENST00000269305.4:c.725G>A
- Variant Type(s)
- missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level D: 2
Evidence Items
Showing CIViC evidence rows where gene = TP53 and variant = C242Y.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Functional | Supports | Dominant Negative | 3 | ||
| D | Functional | Supports | Loss of Function | 2 |