Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
-
ALK p.Phe1245Cys (p.F1245C)
(
ENST00000389048.8,
ENST00000618119.4,
ENST00000642122.1 )
ALK p.Phe1245Cys (p.F1245C) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 ) - Associated Disease
- neuroblastoma
- Source Database
- ClinVar
- Description
- NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys) AND Neuroblastoma
- ClinVar Allele ID
- 214508
- ClinVar RefSeq Alternation Syntax
- NM_004304.5:c.3734T>G
- ClinVar RefSeq Alternation Syntax
- NM_001353765.2:c.530T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-10-02
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000444691
- ClinVar Disease
- Neuroblastoma
- Observed Origin Sample
- somatic
Drugs