Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
XRCC1 MUTATION
XRCC1 MUTATION
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- cervix carcinoma
- Source Database
- DisGeNET
- Description
- XRCC1 R399Q polymorphism is associated with response to platinum-based neoadjuvant chemotherapy in bulky cervical cancer.
- Pubmed
- 16875718
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0129968722514521
- Year of publication
- 2006
Drugs