Variant Summary
- Also known as
- ARG262TRP,R262W,TRP262ARG
- HGVS
- NC_000012.11:g.111884608T>C,NM_005475.2:c.784T>C,ENST00000341259.2:c.784T>C
- Variant Type(s)
- missense_variant,polymorphic_sequence_variant
- Evidence Items
- 1
Evidence Level Distribution
Level B: 1
Evidence Items
Showing CIViC evidence rows where gene = SH2B3 and variant = RS3184504.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| B | Predisposing | Supports | Predisposition | Colorectal Cancer | 2 |