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
- ataxia telangiectasia
- Source Database
- DisGeNET
- Description
- Eight coding SNPs were chosen in ATM (Ser49Cys), BID (Ser56Cys), CASP8 (Asp302His), CASP10 (Val410Ile), LGALS3 (Pro64His), RASSF1 (Ser133Ala), TP53 (Arg72Pro), and TP53AIP1 (Ala7Val), and two non-coding SNPs were selected in BCL2 (-938C/A) and HDM2 (SNP309).
- Pubmed
- 21396839
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.708689196720956
- Year of publication
- 2013
Drugs