Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
-
ALK p.Phe1245Val (p.F1245V)
(
ENST00000389048.8,
ENST00000618119.4,
ENST00000642122.1 )
ALK p.Phe1174Val (p.F1174V) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 )
ALK p.Phe1245Val (p.F1245V) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 )
ALK p.Phe1174Val (p.F1174V) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 ) - Associated Disease
- Central neuroblastoma
- Source Database
- DisGeNET
- Description
- A syndromic presentation associating congenital neuroblastoma with severe encephalopathy and an abnormal shape of the brainstem has been described in patients harbouring de novo germline F1174V and F1245V ALK mutations.
- Pubmed
- 24811761
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0230725591268258
- Year of publication
- 2015
Drugs