Annotation Detail

Information
Associated Genes
ATM
Associated Variants
ATM p.Val2424Gly (p.V2424G) ( ENST00000278616.10, ENST00000675843.1, ENST00000525729.5, ENST00000452508.7, ENST00000601453.3, ENST00000713844.1 )
ATM p.Val2424Gly (p.V2424G) ( ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5, ENST00000278616.10 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.
Pubmed
17001622
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.127502327614053
Year of publication
2006
Drugs