Annotation Detail
Information
- Associated Genes
- FGFR2
- Associated Variants
-
FGFR2 MUTATION
FGFR2 MUTATION
FGFR2 c.109+906T>C ( ENST00000683211.1, ENST00000357555.9, ENST00000683035.1, ENST00000346997.6, ENST00000369061.8, ENST00000457416.7, ENST00000356226.8, ENST00000684153.1, ENST00000611527.1, ENST00000682550.1, ENST00000613048.4, ENST00000359354.6, ENST00000369056.5, ENST00000360144.7, ENST00000369059.5, ENST00000351936.11, ENST00000369060.8, ENST00000358487.10 )
rs2910164
HUS1 p.Ala278= (p.A278=) ( ENST00000258774.10, ENST00000432325.5 )
HUS1 c.358-283A>C ( ENST00000258774.10, ENST00000432325.5 )
FGFR2 c.109+906T>C ( ENST00000683211.1, ENST00000684153.1, ENST00000346997.6, ENST00000351936.11, ENST00000356226.8, ENST00000357555.9, ENST00000358487.10, ENST00000359354.6, ENST00000360144.7, ENST00000369056.5, ENST00000369059.5, ENST00000369060.8, ENST00000369061.8, ENST00000457416.7, ENST00000611527.1, ENST00000613048.4, ENST00000682550.1, ENST00000683035.1 )
rs2910164
HUS1 p.Ala278= (p.A278=) ( ENST00000258774.10, ENST00000432325.5 )
HUS1 c.358-283A>C ( ENST00000258774.10, ENST00000432325.5 ) - Associated Disease
- ovarian carcinoma
- Source Database
- DisGeNET
- Description
- The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, and rs104548, rs2981582 and rs2910164 polymorphisms of CASP8, FGFR2 and micro RNA 146A genes, respectively, as risk modifiers in hereditary breast or ovarian cancer (BC/OC) and risk factors in sporadic BC.
- Pubmed
- 22926736
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2012
Drugs