Variant Summary
- Also known as
- R383X,ARG383TER,RS63749849
- HGVS
- NM_000251.2:c.1147C>T,NP_000242.1:p.Arg383Ter,ENST00000233146.2:c.1147C>T,NC_000002.11:g.47656951C>T
- Variant Type(s)
- stop_gained
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = MSH2 and variant = R383*.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Oncogenic | Supports | Oncogenicity | Endometrial Cancer | 1 |