Annotation Detail

Information
Associated Genes
ATM
Associated Variants
ATM p.Asp1853Asn (p.D1853N) ( ENST00000452508.7, ENST00000278616.10, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Asp1853Asn (p.D1853N) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
Associated Disease
Brain Tumor, Primary
Source Database
DisGeNET
Description
Three-hit hypothesis in astrocytoma: tracing the polymorphism D1853N in ATM gene through a pedigree of the proband affected with primary brain tumor.
Pubmed
18465141
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2008
Drugs