Annotation Detail

Information
Associated Genes
XRCC1
Associated Variants
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
Associated Disease
Neoplasms, Second Primary
Source Database
DisGeNET
Description
[The genotype distribution of the XRCC1 gene indicates a role for base excision repair in the development of therapy-related acute myeloblastic leukemia.]
Pubmed
12393447
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.00500550582928437
Year of publication
2002
Drugs