Variant Summary
- Also known as
- SER45PHE,RS121913409
- HGVS
- NM_001904.3:c.134C>T,NP_001895.1:p.Ser45Phe,NC_000003.11:g.41266137C>T,ENST00000349496.5:c.134C>T
- Variant Type(s)
- missense_variant
- Evidence Items
- 5
Evidence Level Distribution
Level B: 4Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = CTNNB1 and variant = S45F.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| B | Diagnostic | Supports | Positive | Desmoid Tumor | 4 | |
| B | Diagnostic | Supports | Positive | Desmoid Tumor | 4 | |
| B | Prognostic | Supports | Poor Outcome | Desmoid Tumor | 4 | |
| B | Prognostic | Supports | Poor Outcome | Desmoid Tumor | 3 | |
| C | Predictive | Does Not Support | Sensitivity/Response | Desmoid Tumor | Meloxicam | 2 |