Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
-
ALK p.Arg1275Gln (p.R1275Q)
(
ENST00000389048.8,
ENST00000618119.4,
ENST00000642122.1 )
ALK p.Arg1275Gln (p.R1275Q) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 ) - Associated Disease
- neuroblastoma
- Source Database
- CIViC Evidence
- Description
- Cells lines expressing ALK harboring the F1174L mutation are less sensitive to growth inhibition by crizotinib than cells expressing the R1275Q mutation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/143
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1
- Variant URL
- https://civic.genome.wustl.edu/links/variants/9
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Neuroblastoma
- Evidence Direction
- Supports
- Drug
- Crizotinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 22072639
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Crizotinib | Sensitivity | true |