Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
-
ALK p.Thr1087Ile (p.T1087I)
(
ENST00000389048.8,
ENST00000618119.4,
ENST00000642122.1 )
ALK p.Thr1087Ile (p.T1087I) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 ) - Associated Disease
- Neuroblastoma, susceptibility to, 3
- Source Database
- ClinVar
- Description
- NM_004304.5(ALK):c.3260C>T (p.Thr1087Ile) AND Neuroblastoma, susceptibility to, 3
- ClinVar Allele ID
- 34247
- ClinVar RefSeq Alternation Syntax
- NM_004304.5:c.3260C>T
- ClinVar RefSeq Alternation Syntax
- NM_001353765.2:c.56C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-01-18
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000020581
- ClinVar Disease
- Neuroblastoma, susceptibility to, 3
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs