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
- Congenital chromosomal disease
- Source Database
- DisGeNET
- Description
- We found no consistent cytotoxicity or abrogation of ATM kinase activity after IR in seven heterozygous V2424G LCLs, compared to wild-type LCLs, but did find an increase in the number of chromosomal aberrations.
- Pubmed
- 17001622
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00542883744160607
- Year of publication
- 2006
Drugs