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
- Congenital chromosomal disease
- Source Database
- DisGeNET
- Description
- The highest frequency of total chromosomal aberrations was recorded in individuals with homozygous variant Gln/Gln cariers (2.14%) in XRCC1* Arg-399Gln and the lowest in those with the wild-type Arg/Arg cariers (1.33%).
- Pubmed
- 18987609
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00461451182536516
- Year of publication
- 2008
Drugs