Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
-
ALK p.Ile1250Thr (p.I1250T)
(
ENST00000389048.8,
ENST00000618119.4,
ENST00000642122.1 )
ALK p.Ile1250Thr (p.I1250T) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 ) - Associated Disease
- neuroblastoma
- Source Database
- ClinVar
- Description
- NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr) AND Neuroblastoma
- ClinVar Allele ID
- 34719
- ClinVar RefSeq Alternation Syntax
- NM_001353765.2:c.545T>C
- ClinVar RefSeq Alternation Syntax
- NM_004304.5:c.3749T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-13
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000440760
- ClinVar Disease
- Neuroblastoma
- Observed Origin Sample
- somatic
Drugs