Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
-
ALK p.Arg1275Gln (p.R1275Q)
(
ENST00000389048.8,
ENST00000618119.4,
ENST00000642122.1 )
ALK p.Arg1275Gln (p.R1275Q) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 ) - Associated Disease
- Central neuroblastoma
- Source Database
- DisGeNET
- Description
- Activating mutations within the full-length ALK kinase domain, most commonly R1275Q and F1174L, which play a major role in neuroblastoma, were recently identified.
- Pubmed
- 20632993
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0230725591268258
- Year of publication
- 2010
Drugs