Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM p.Ser49Cys (p.S49C)
(
ENST00000684029.1,
ENST00000278616.10,
ENST00000452508.7,
ENST00000683914.2,
ENST00000675843.1,
ENST00000526567.5,
ENST00000713847.1,
ENST00000713844.1,
ENST00000713846.1,
ENST00000532931.6,
ENST00000531525.3,
ENST00000639953.1,
ENST00000682465.1,
ENST00000640388.1,
ENST00000683468.1,
ENST00000601453.3,
ENST00000639240.1,
ENST00000713845.1,
ENST00000683150.1,
ENST00000530958.5 )
ATM p.Ser49Phe (p.S49F) ( ENST00000640388.1, ENST00000684029.1, ENST00000682465.1, ENST00000639953.1, ENST00000675843.1, ENST00000683914.2, ENST00000683468.1, ENST00000452508.7, ENST00000278616.10, ENST00000713847.1, ENST00000526567.5, ENST00000713845.1, ENST00000639240.1, ENST00000601453.3, ENST00000531525.3, ENST00000532931.6, ENST00000530958.5, ENST00000713846.1, ENST00000683150.1, ENST00000713844.1 )
ATM p.Ser49Cys (p.S49C) ( ENST00000278616.10, ENST00000452508.7, ENST00000526567.5, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1, ENST00000682465.1, ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1 )
ATM p.Ser49Phe (p.S49F) ( ENST00000278616.10, ENST00000452508.7, ENST00000526567.5, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000639240.1, ENST00000639953.1, ENST00000640388.1, ENST00000675843.1, ENST00000682465.1, ENST00000683150.1, ENST00000683468.1, ENST00000683914.2, ENST00000684029.1, ENST00000713844.1, ENST00000713845.1, ENST00000713846.1, ENST00000713847.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with breast carcinoma compared with population controls.
- Pubmed
- 15042666
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0469594438698925
- Year of publication
- 2004
Drugs