Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
XRCC1 MUTATION
XRCC1 MUTATION
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- Leukemia, Myelocytic, Acute
- Source Database
- DisGeNET
- Description
- XRCC1 Arg194Trp and Arg399Gln polymorphisms are significantly associated with shorter survival in acute myeloid leukemia.
- Pubmed
- 23662987
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00827273981591214
- Year of publication
- 2014
Drugs