Annotation Detail
Information
- Associated Genes
- XRCC3
- Associated Variants
-
XRCC3 p.Arg243His (p.R243H), KLC1 c.1849-1245C>T
(
ENST00000348520.10,
ENST00000554913.5,
ENST00000557450.5,
ENST00000554974.5,
ENST00000452929.6,
ENST00000553264.5,
ENST00000352127.11,
ENST00000555055.6,
ENST00000334553.11,
ENST00000554280.5,
ENST00000555836.5 )
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A ( ENST00000555836.5, ENST00000554280.5, ENST00000557450.5, ENST00000348520.10, ENST00000554913.5, ENST00000553264.5, ENST00000555055.6, ENST00000352127.11, ENST00000334553.11, ENST00000554974.5, ENST00000452929.6 )
XRCC2 p.Arg188His (p.R188H) ( ENST00000359321.2, ENST00000698506.1 )
XRCC3 p.Arg243His (p.R243H), KLC1 c.1849-1245C>T ( ENST00000334553.11, ENST00000348520.10, ENST00000452929.6, ENST00000554280.5, ENST00000555836.5, ENST00000557450.5, ENST00000352127.11, ENST00000553264.5, ENST00000554913.5, ENST00000554974.5, ENST00000555055.6 )
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A ( ENST00000334553.11, ENST00000348520.10, ENST00000452929.6, ENST00000554280.5, ENST00000555836.5, ENST00000557450.5, ENST00000352127.11, ENST00000553264.5, ENST00000554913.5, ENST00000554974.5, ENST00000555055.6 )
XRCC2 p.Arg188His (p.R188H) ( ENST00000359321.2, ENST00000698506.1 ) - Associated Disease
- Malignant tumor of cervix
- Source Database
- DisGeNET
- Description
- XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nucleotide polymorphisms in cervical cancer risk.
- Pubmed
- 23539294
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2013
Drugs