Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM c.496+5G>A
(
ENST00000531525.3,
ENST00000530958.5,
ENST00000713844.1,
ENST00000601453.3,
ENST00000675843.1,
ENST00000452508.7,
ENST00000278616.10,
ENST00000684029.1 )
ATM c.5763-1050A>G ( ENST00000525729.5, ENST00000278616.10, ENST00000452508.7, ENST00000675843.1, ENST00000601453.3, ENST00000713844.1 )
ATM p.Ala2067Asp (p.A2067D) ( ENST00000525729.5, ENST00000452508.7, ENST00000278616.10, ENST00000675843.1, ENST00000713844.1, ENST00000601453.3 )
ATM p.Val2424Gly (p.V2424G) ( ENST00000278616.10, ENST00000675843.1, ENST00000525729.5, ENST00000452508.7, ENST00000601453.3, ENST00000713844.1 )
ATM c.496+5G>A ( ENST00000278616.10, ENST00000452508.7, ENST00000530958.5, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000684029.1, ENST00000713844.1 )
ATM c.5763-1050A>G ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 )
ATM p.Ala2067Asp (p.A2067D) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 )
ATM p.Val2424Gly (p.V2424G) ( ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5, ENST00000278616.10 ) - Associated Disease
- Ataxia-Telangiectasia Variant
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs