Variant Summary
- Also known as
- ARG1242HIS,RS63750119
- HGVS
- NM_000179.2:c.3725G>A,NP_000170.1:p.Arg1242His,ENST00000234420.5:c.3725G>A,NC_000002.11:g.48033421G>A
- Variant Type(s)
- missense_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = MSH6 and variant = R1242H.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Oncogenic | Supports | Oncogenicity | Colorectal Cancer | 1 |