Annotation Detail

Information
Associated Genes
MRE11
Associated Variants
MRE11 p.Thr481HisfsTer43 (p.T481Hfs*43) ( ENST00000393241.8, ENST00000407439.7, ENST00000323929.8, ENST00000323977.7 )
MRE11 p.Leu446SerfsTer4 (p.L446Sfs*4) ( ENST00000393241.8, ENST00000407439.7, ENST00000323929.8, ENST00000323977.7 )
MRE11 p.Trp210ValfsTer2 (p.W210Vfs*2) ( ENST00000323977.7, ENST00000323929.8, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Leu169ArgfsTer16 (p.L169Rfs*16) ( ENST00000323977.7, ENST00000323929.8, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Asp8Ter (p.D8*) ( ENST00000323977.7, ENST00000323929.8, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Thr481HisfsTer43 (p.T481Hfs*43) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Leu446SerfsTer4 (p.L446Sfs*4) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Trp210ValfsTer2 (p.W210Vfs*2) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Leu169ArgfsTer16 (p.L169Rfs*16) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Asp8Ter (p.D8*) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Gln482LeufsTer43 (p.Q482Lfs*43) ( ENST00000393241.8, ENST00000407439.7, ENST00000323977.7, ENST00000323929.8 )
MRE11 p.Leu274HisfsTer16 (p.L274Hfs*16) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Gln482LeufsTer43 (p.Q482Lfs*43) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Leu274HisfsTer16 (p.L274Hfs*16) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 c.2070+2T>A ( ENST00000393241.8, ENST00000407439.7, ENST00000323929.8, ENST00000323977.7 )
MRE11 c.1927-2A>G ( ENST00000323977.7, ENST00000323929.8, ENST00000393241.8, ENST00000407439.7 )
MRE11 c.1867+2T>C ( ENST00000323977.7, ENST00000323929.8, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg576Ter (p.R576*) ( ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000323929.8 )
MRE11 p.Arg576Gly (p.R576G) ( ENST00000323977.7, ENST00000323929.8, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg576= (p.R576=) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg572Ter (p.R572*) ( ENST00000323929.8, ENST00000407439.7, ENST00000393241.8, ENST00000323977.7 )
MRE11 p.Glu506Ter (p.E506*) ( ENST00000393241.8, ENST00000407439.7, ENST00000323929.8, ENST00000323977.7 )
MRE11 p.Glu506Lys (p.E506K) ( ENST00000323977.7, ENST00000323929.8, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg364Ter (p.R364*) ( ENST00000407439.7, ENST00000323929.8, ENST00000323977.7, ENST00000393241.8 )
MRE11 p.Arg364Gly (p.R364G) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg364= (p.R364=) ( ENST00000393241.8, ENST00000407439.7, ENST00000323977.7, ENST00000323929.8 )
MRE11 p.Arg305Trp (p.R305W) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 c.845+2T>A ( ENST00000323977.7, ENST00000323929.8, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Gln170Ter (p.Q170*) ( ENST00000393241.8, ENST00000407439.7, ENST00000323929.8, ENST00000323977.7, ENST00000540013.5 )
MRE11 p.Gln170Lys (p.Q170K) ( ENST00000540013.5, ENST00000393241.8, ENST00000407439.7, ENST00000323929.8, ENST00000323977.7 )
MRE11 p.Pro166Leu (p.P166L) ( ENST00000393241.8, ENST00000407439.7, ENST00000323977.7, ENST00000323929.8, ENST00000540013.5 )
MRE11 p.Asn117Ser (p.N117S) ( ENST00000393241.8, ENST00000407439.7, ENST00000323977.7, ENST00000323929.8, ENST00000540013.5 )
MRE11 p.Met26Thr (p.M26T) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 c.2070+2T>A ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 c.1927-2A>G ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 c.1867+2T>C ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg576Ter (p.R576*) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg576Gly (p.R576G) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg576= (p.R576=) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg572Ter (p.R572*) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Glu506Ter (p.E506*) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Glu506Lys (p.E506K) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg364Ter (p.R364*) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg364Gly (p.R364G) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg364= (p.R364=) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg305Trp (p.R305W) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 c.845+2T>A ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Gln170Ter (p.Q170*) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Gln170Lys (p.Q170K) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Pro166Leu (p.P166L) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Asn117Ser (p.N117S) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Met26Thr (p.M26T) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Lys661AspfsTer45 (p.K661Dfs*45)
MRE11 p.Gly409ArgfsTer48 (p.G409Rfs*48)
MRE11 p.Arg380SerfsTer3 (p.R380Sfs*3)
MRE11 p.Met309TyrfsTer8 (p.M309Yfs*8)
MRE11 p.Glu248Ter (p.E248*)
MRE11 p.Lys661AspfsTer45 (p.K661Dfs*45)
MRE11 p.Gly409ArgfsTer48 (p.G409Rfs*48)
MRE11 p.Arg380SerfsTer3 (p.R380Sfs*3)
MRE11 p.Met309TyrfsTer8 (p.M309Yfs*8)
MRE11 p.Glu248Ter (p.E248*)
Associated Disease
Neoplastic Syndromes, Hereditary
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.12
Year of publication
NA
Drugs