Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
-
ALK p.Arg1192Pro (p.R1192P)
(
ENST00000389048.8,
ENST00000618119.4,
ENST00000642122.1 )
ALK p.Arg1192Pro (p.R1192P) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 ) - Associated Disease
- Neuroblastoma, susceptibility to, 3
- Source Database
- ClinVar
- Description
- NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) AND Neuroblastoma, susceptibility to, 3
- ClinVar Allele ID
- 33124
- ClinVar RefSeq Alternation Syntax
- NM_001353765.2:c.371G>C
- ClinVar RefSeq Alternation Syntax
- NM_004304.5:c.3575G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-09-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019711
- ClinVar Disease
- Neuroblastoma, susceptibility to, 3
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
- Pubmed
- 18923523
- Pubmed
- 22071890
- Pubmed
- 18724359
Drugs