Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
-
ALK p.Gly1128Ala (p.G1128A)
(
ENST00000389048.8,
ENST00000618119.4,
ENST00000642122.1 )
ALK p.Gly1128Ala (p.G1128A) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 ) - Associated Disease
- Neuroblastoma, susceptibility to, 3
- Source Database
- ClinVar
- Description
- NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) AND Neuroblastoma, susceptibility to, 3
- ClinVar Allele ID
- 33123
- ClinVar RefSeq Alternation Syntax
- NM_001353765.2:c.179G>C
- ClinVar RefSeq Alternation Syntax
- NM_004304.5:c.3383G>C
- Clinical Significance Description
- Pathogenic; risk factor
- Clinical Significance Last Update
- 2015-10-07
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019710
- ClinVar Disease
- Neuroblastoma, susceptibility to, 3
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
- Pubmed
- 18724359
Drugs