Annotation Detail
Information
- Associated Genes
- XRCC6
- Associated Variants
-
XRCC4 c.315+31120_315+31149delGATGAGGAAACTAACTCTCAGTGGTGTTTA
(
ENST00000282268.7,
ENST00000338635.10,
ENST00000396027.9,
ENST00000511817.1 )
XRCC4 c.315+31120_315+31149delGATGAGGAAACTAACTCTCAGTGGTGTTTA ( ENST00000282268.7, ENST00000338635.10, ENST00000396027.9, ENST00000511817.1 )
LIG4 p.Thr9Ile (p.T9I) ( ENST00000687164.1, ENST00000688595.1, ENST00000686204.1, ENST00000688396.1, ENST00000686095.1, ENST00000685338.1, ENST00000686913.1, ENST00000689762.1, ENST00000614526.2, ENST00000611712.4, ENST00000687822.1, ENST00000405925.2, ENST00000693040.1, ENST00000686926.1, ENST00000692222.1, ENST00000688529.1, ENST00000442234.6, ENST00000690127.1, ENST00000688455.1 )
DESI1 c.88+57G>C ( ENST00000263256.7 )
XRCC5 c.2110-2408G>A ( ENST00000392132.7, ENST00000392133.7 )
TMEM167A c.3+1394A>C ( ENST00000502346.2 )
LIG4 p.Thr9Ile (p.T9I) ( ENST00000405925.2, ENST00000442234.6, ENST00000611712.4, ENST00000614526.2, ENST00000685338.1, ENST00000686095.1, ENST00000686204.1, ENST00000686913.1, ENST00000686926.1, ENST00000687164.1, ENST00000687822.1, ENST00000688396.1, ENST00000688455.1, ENST00000688529.1, ENST00000688595.1, ENST00000689762.1, ENST00000690127.1, ENST00000692222.1, ENST00000693040.1 )
DESI1 c.88+57G>C ( ENST00000263256.7 )
XRCC5 c.2110-2408G>A ( ENST00000392132.7, ENST00000392133.7 )
TMEM167A c.3+1394A>C ( ENST00000502346.2 ) - Associated Disease
- Non-small cell lung carcinoma
- Source Database
- DisGeNET
- Description
- The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4) reference SNP (rs) number rs6869366 (-1394 guanine to thymine [-1394G→T] change) and rs28360071 (intron 3, deletion/insertion), XRCC5 rs3835 (guanine to adenine [G→A] change at nucleotide 2408), XRCC6 rs2267437 (-1310 cytosine to guanine [C→G) change], and DNA ligase IV (LIG4) rs1805388 (threonine-to-isoleucine change at codon 9 [T9I])-and estimated their associations with severe radiation pneumonitis (RP) (grade ≥3) in 195 patients with NSCLC.
- Pubmed
- 21717429
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2012
Drugs