Annotation Detail

Information
Associated Genes
F11
Associated Variants
F11 p.Gly303GlufsTer46 (p.G303Efs*46) ( ENST00000403665.7 )
F11 p.Cys321HisfsTer37 (p.C321Hfs*37) ( ENST00000403665.7 )
F11 p.Ile359TyrfsTer13 (p.I359Yfs*13) ( ENST00000403665.7 )
F11 p.Gly303GlufsTer46 (p.G303Efs*46) ( ENST00000403665.7 )
F11 p.Cys321HisfsTer37 (p.C321Hfs*37) ( ENST00000403665.7 )
F11 p.Ile359TyrfsTer13 (p.I359Yfs*13) ( ENST00000403665.7 )
F11 p.Gln23Ter (p.Q23*) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Cys56Arg (p.C56R) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Ala109Thr (p.A109T) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Gln134Ter (p.Q134*) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Glu135Ter (p.E135*) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Cys136Ter (p.C136*) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Cys146Ter (p.C146*) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Arg228Ter (p.R228*) ( ENST00000403665.7 )
F11 p.Gln244Ter (p.Q244*) ( ENST00000403665.7 )
F11 p.Gln251Ter (p.Q251*) ( ENST00000403665.7 )
F11 p.Lys270Ile (p.K270I) ( ENST00000403665.7 )
F11 p.Phe301Leu (p.F301L) ( ENST00000403665.7 )
F11 p.Arg326Cys (p.R326C) ( ENST00000403665.7 )
F11 p.Tyr369Ter (p.Y369*) ( ENST00000403665.7 )
F11 p.Arg396Cys (p.R396C) ( ENST00000403665.7 )
F11 p.Thr404Asn (p.T404N) ( ENST00000403665.7 )
F11 p.Gly418Asp (p.G418D) ( ENST00000403665.7 )
F11 p.Gly418Val (p.G418V) ( ENST00000403665.7 )
F11 p.Ala430Val (p.A430V) ( ENST00000403665.7 )
F11 p.Ser438Ter (p.S438*) ( ENST00000403665.7 )
F11 p.Phe460Val (p.F460V) ( ENST00000403665.7 )
F11 p.Gln23Ter (p.Q23*) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Cys56Arg (p.C56R) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Ala109Thr (p.A109T) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Gln134Ter (p.Q134*) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Glu135Ter (p.E135*) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Cys136Ter (p.C136*) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Cys146Ter (p.C146*) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Arg228Ter (p.R228*) ( ENST00000403665.7 )
F11 p.Gln244Ter (p.Q244*) ( ENST00000403665.7 )
F11 p.Gln251Ter (p.Q251*) ( ENST00000403665.7 )
F11 p.Lys270Ile (p.K270I) ( ENST00000403665.7 )
F11 p.Phe301Leu (p.F301L) ( ENST00000403665.7 )
F11 p.Arg326Cys (p.R326C) ( ENST00000403665.7 )
F11 p.Tyr369Ter (p.Y369*) ( ENST00000403665.7 )
F11 p.Arg396Cys (p.R396C) ( ENST00000403665.7 )
F11 p.Thr404Asn (p.T404N) ( ENST00000403665.7 )
F11 p.Gly418Asp (p.G418D) ( ENST00000403665.7 )
F11 p.Gly418Val (p.G418V) ( ENST00000403665.7 )
F11 p.Ala430Val (p.A430V) ( ENST00000403665.7 )
F11 p.Ser438Ter (p.S438*) ( ENST00000403665.7 )
F11 p.Phe460Val (p.F460V) ( ENST00000403665.7 )
Associated Disease
factor XI deficiency
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.586518934375277
Year of publication
NA
Drugs