Annotation Detail
Information
- Associated Genes
- TP53BP1
- Associated Variants
-
ATM p.Trp412Cys (p.W412C)
(
ENST00000713844.1,
ENST00000531525.3,
ENST00000601453.3,
ENST00000278616.10,
ENST00000452508.7,
ENST00000675843.1 )
ATM p.Asp1853Asn (p.D1853N) ( ENST00000452508.7, ENST00000278616.10, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Trp412Cys (p.W412C) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Asp1853Asn (p.D1853N) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 ) - Associated Disease
- cervix carcinoma
- Source Database
- DisGeNET
- Description
- Genetic polymorphisms and cervical cancer development: ATM G5557A and p53bp1 C1236G.
- Pubmed
- 22200742
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2012
Drugs