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 Neoplasms
- Source Database
- DisGeNET
- Description
- The involvement of ATM gene and specifically, the important role of D1853N polymorphism, as a three-hit hypothesis has been previously reported in an Iranian proband affected with brain tumor and this polymorphism could be screened in her relatives as well.
- Pubmed
- 20396981
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00581983144552528
- Year of publication
- 2011
Drugs