Annotation Detail
Information
- Associated Genes
- NBN
- Associated Variants
-
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 )
RAD51 c.-98G>C ( ENST00000382643.7, ENST00000423169.6, ENST00000557850.5, ENST00000645673.2, ENST00000267868.8 )
RAD51 c.-61G>C ( ENST00000423169.6, ENST00000557850.5, ENST00000382643.7, ENST00000645673.2, ENST00000267868.8 )
RAD51 c.-61G>T ( ENST00000267868.8, ENST00000645673.2, ENST00000382643.7, ENST00000557850.5, ENST00000423169.6 )
XRCC2 p.Arg188His (p.R188H) ( ENST00000359321.2, ENST00000698506.1 )
NC_000007.14:g.152676167C>G ( ENST00000698506.1 )
NBN p.Glu185Gln (p.E185Q) ( ENST00000265433.8, ENST00000409330.5, ENST00000517337.2, ENST00000523444.2, ENST00000697292.1, ENST00000697293.1, ENST00000697298.1, ENST00000697299.1, ENST00000697304.1, ENST00000697307.1, ENST00000697308.1, ENST00000697309.1, ENST00000697310.1 )
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 )
RAD51 c.-98G>C ( ENST00000267868.8, ENST00000382643.7, ENST00000423169.6, ENST00000557850.5, ENST00000645673.2 )
RAD51 c.-61G>C ( ENST00000267868.8, ENST00000382643.7, ENST00000423169.6, ENST00000557850.5, ENST00000645673.2 )
RAD51 c.-61G>T ( ENST00000267868.8, ENST00000382643.7, ENST00000423169.6, ENST00000557850.5, ENST00000645673.2 )
XRCC2 p.Arg188His (p.R188H) ( ENST00000359321.2, ENST00000698506.1 )
NC_000007.14:g.152676167C>G ( ENST00000698506.1 )
NBN p.Glu185Gln (p.E185Q) ( ENST00000265433.8, ENST00000409330.5, ENST00000517337.2, ENST00000523444.2, ENST00000697292.1, ENST00000697293.1, ENST00000697298.1, ENST00000697299.1, ENST00000697304.1, ENST00000697307.1, ENST00000697308.1, ENST00000697309.1, ENST00000697310.1 ) - Associated Disease
- Non-small cell lung carcinoma
- Source Database
- DisGeNET
- Description
- We genotyped six potentially functional single nucleotide polymorphisms (SNPs) (i.e., RAD51 -135G>C/rs1801320 and -172G>T/rs1801321, XRCC2 4234G>C/rs3218384 and R188H/rs3218536 G>A, XRCC3 T241M/rs861539 and NBN E185Q/rs1805794) and estimated their associations with overall survival (OS) and radiation pneumonitis (RP) in 228 NSCLC patients.
- Pubmed
- 21647442
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2011
Drugs