Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM p.Ser707Pro (p.S707P)
(
ENST00000675843.1,
ENST00000278616.10,
ENST00000452508.7,
ENST00000531525.3,
ENST00000713844.1,
ENST00000601453.3 )
ATM p.Pro1054Arg (p.P1054R) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Ser707Pro (p.S707P) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Pro1054Arg (p.P1054R) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer.
- Pubmed
- 12473176
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0469594438698925
- Year of publication
- 2002
Drugs