Annotation Detail

Information
Associated Genes
RB1
Associated Variants
RB1 p.Glu19ProfsTer3 (p.E19Pfs*3) ( ENST00000267163.6, ENST00000646097.1, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Pro29del (p.P29del) ( ENST00000713858.1, ENST00000713857.1, ENST00000646097.1, ENST00000267163.6, ENST00000650461.1, ENST00000713856.1 )
RB1 p.Arg73GlufsTer4 (p.R73Efs*4) ( ENST00000713857.1, ENST00000713858.1, ENST00000713856.1, ENST00000650461.1, ENST00000646097.1, ENST00000267163.6 )
RB1 p.Arg73SerfsTer36 (p.R73Sfs*36) ( ENST00000267163.6, ENST00000646097.1, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Cys102TyrfsTer7 (p.C102Yfs*7) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713858.1, ENST00000713857.1 )
RB1 p.Asn146LysfsTer6 (p.N146Kfs*6) ( ENST00000713857.1, ENST00000713858.1, ENST00000713856.1, ENST00000650461.1, ENST00000267163.6 )
RB1 p.Lys265AsnfsTer3 (p.K265Nfs*3) ( ENST00000713856.1, ENST00000267163.6, ENST00000650461.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Thr342LeufsTer7 (p.T342Lfs*7) ( ENST00000713857.1, ENST00000713858.1, ENST00000713856.1, ENST00000267163.6, ENST00000650461.1 )
RB1 p.Gln354GlufsTer7 (p.Q354Efs*7) ( ENST00000713857.1, ENST00000713858.1, ENST00000713856.1, ENST00000650461.1, ENST00000267163.6 )
RB1 p.Glu398LysfsTer3 (p.E398Kfs*3) ( ENST00000713856.1, ENST00000267163.6, ENST00000650461.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1421+12_1421+32delACTTTTAGTAAAAAATTTTTT ( ENST00000713856.1, ENST00000650461.1, ENST00000267163.6, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Asn480del (p.N480del) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Leu486IlefsTer6 (p.L486Ifs*6) ( ENST00000713857.1, ENST00000713858.1, ENST00000713856.1, ENST00000267163.6, ENST00000650461.1 )
RB1 p.Glu587ValfsTer21 (p.E587Vfs*21) ( ENST00000713858.1, ENST00000713857.1, ENST00000650461.1, ENST00000267163.6, ENST00000713856.1 )
RB1 p.Phe636SerfsTer7 (p.F636Sfs*7) ( ENST00000713857.1, ENST00000713858.1, ENST00000713856.1, ENST00000650461.1, ENST00000267163.6 )
RB1 p.Phe650_Lys653delinsTer (p.F650_K653delins*) ( ENST00000713858.1, ENST00000713857.1, ENST00000650461.1, ENST00000267163.6, ENST00000713856.1 )
RB1 p.Glu748AspfsTer6 (p.E748Dfs*6) ( ENST00000713858.1, ENST00000713857.1, ENST00000650461.1, ENST00000267163.6, ENST00000713856.1 )
RB1 p.Gly818ValfsTer8 (p.G818Vfs*8) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713858.1, ENST00000713857.1 )
RB1 c.2520+1delG ( ENST00000713858.1, ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1 )
RB1 p.Glu19ProfsTer3 (p.E19Pfs*3) ( ENST00000267163.6, ENST00000646097.1, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Pro29del (p.P29del) ( ENST00000267163.6, ENST00000646097.1, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg73GlufsTer4 (p.R73Efs*4) ( ENST00000267163.6, ENST00000646097.1, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg73SerfsTer36 (p.R73Sfs*36) ( ENST00000267163.6, ENST00000646097.1, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Cys102TyrfsTer7 (p.C102Yfs*7) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Asn146LysfsTer6 (p.N146Kfs*6) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Lys265AsnfsTer3 (p.K265Nfs*3) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Thr342LeufsTer7 (p.T342Lfs*7) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Gln354GlufsTer7 (p.Q354Efs*7) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Glu398LysfsTer3 (p.E398Kfs*3) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1421+12_1421+32delACTTTTAGTAAAAAATTTTTT ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Asn480del (p.N480del) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Leu486IlefsTer6 (p.L486Ifs*6) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Glu587ValfsTer21 (p.E587Vfs*21) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Phe636SerfsTer7 (p.F636Sfs*7) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Phe650_Lys653delinsTer (p.F650_K653delins*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Glu748AspfsTer6 (p.E748Dfs*6) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Gly818ValfsTer8 (p.G818Vfs*8) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.2520+1delG ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Gln689HisfsTer4 (p.Q689Hfs*4) ( ENST00000713858.1, ENST00000713857.1, ENST00000650461.1, ENST00000267163.6, ENST00000713856.1 )
RB1 p.Gln689HisfsTer4 (p.Q689Hfs*4) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.-198G>A
RB1 c.-189G>T
RB1 p.Gln35Ter (p.Q35*) ( ENST00000267163.6, ENST00000646097.1, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Trp99Ter (p.W99*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Glu137Ter (p.E137*) ( ENST00000267163.6, ENST00000713856.1, ENST00000713857.1, ENST00000650461.1, ENST00000713858.1 )
RB1 p.Ser149Ter (p.S149*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Ser149Leu (p.S149L) ( ENST00000650461.1, ENST00000267163.6, ENST00000713856.1, ENST00000713858.1, ENST00000713857.1 )
RB1 p.Glu170Ter (p.E170*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.607+1G>T ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713858.1, ENST00000713857.1 )
RB1 p.Arg255Ter (p.R255*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Glu313Ter (p.E313*) ( ENST00000650461.1, ENST00000267163.6, ENST00000713857.1, ENST00000713858.1, ENST00000713856.1 )
RB1 p.Arg320Gly (p.R320G) ( ENST00000713858.1, ENST00000713857.1, ENST00000650461.1, ENST00000267163.6, ENST00000713856.1 )
RB1 p.Arg320Ter (p.R320*) ( ENST00000713856.1, ENST00000267163.6, ENST00000650461.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Lys341Ter (p.K341*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713858.1, ENST00000713857.1 )
RB1 c.1049+1G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1049+1G>T ( ENST00000713856.1, ENST00000267163.6, ENST00000650461.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg358Ter (p.R358*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Leu389Ter (p.L389*) ( ENST00000650461.1, ENST00000267163.6, ENST00000713856.1, ENST00000713858.1, ENST00000713857.1 )
RB1 c.1215+1G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1216-1G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1332+1G>A ( ENST00000650461.1, ENST00000267163.6, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1332+1G>T ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg445Ter (p.R445*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Gly449Val (p.G449V) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg455Ter (p.R455*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg467Ter (p.R467*) ( ENST00000713858.1, ENST00000713857.1, ENST00000267163.6, ENST00000713856.1, ENST00000650461.1 )
RB1 p.Leu491Pro (p.L491P) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg552Ter (p.R552*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg556Ter (p.R556*) ( ENST00000713856.1, ENST00000267163.6, ENST00000650461.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Trp563Ter (p.W563*) ( ENST00000713858.1, ENST00000713857.1, ENST00000267163.6, ENST00000650461.1, ENST00000713856.1 )
RB1 c.1695+1G>A ( ENST00000713856.1, ENST00000650461.1, ENST00000267163.6, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1696-1G>A ( ENST00000713857.1, ENST00000713858.1, ENST00000713856.1, ENST00000267163.6, ENST00000650461.1 )
RB1 p.Ser567Leu (p.S567L) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Gln575Ter (p.Q575*) ( ENST00000267163.6, ENST00000713858.1, ENST00000713857.1, ENST00000650461.1, ENST00000713856.1 )
RB1 p.Arg579Ter (p.R579*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Glu580Ter (p.E580*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713858.1, ENST00000713857.1, ENST00000713856.1 )
RB1 p.Tyr606Ter (p.Y606*) ( ENST00000713858.1, ENST00000713857.1, ENST00000650461.1, ENST00000267163.6, ENST00000713856.1 )
RB1 p.Gln637Ter (p.Q637*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Leu642Ter (p.L642*) ( ENST00000713858.1, ENST00000713857.1, ENST00000650461.1, ENST00000267163.6, ENST00000713856.1 )
RB1 p.Lys643Glu (p.K643E) ( ENST00000713857.1, ENST00000713858.1, ENST00000713856.1, ENST00000650461.1, ENST00000267163.6 )
RB1 c.1960+2T>C ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1960+5G>A ( ENST00000713858.1, ENST00000713857.1, ENST00000267163.6, ENST00000650461.1, ENST00000713856.1 )
RB1 c.1961-2A>T ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Ala658Asp (p.A658D) ( ENST00000713858.1, ENST00000713857.1, ENST00000650461.1, ENST00000267163.6, ENST00000713856.1 )
RB1 p.Ala658Val (p.A658V) ( ENST00000650461.1, ENST00000267163.6, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg661Trp (p.R661W) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Asp701Asn (p.D701N) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713858.1, ENST00000713857.1 )
RB1 c.2107-1G>C ( ENST00000713856.1, ENST00000650461.1, ENST00000267163.6, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Cys712Arg (p.C712R) ( ENST00000713858.1, ENST00000713857.1, ENST00000650461.1, ENST00000267163.6, ENST00000713856.1 )
RB1 p.Lys722Ter (p.K722*) ( ENST00000713857.1, ENST00000713858.1, ENST00000713856.1, ENST00000267163.6, ENST00000650461.1 )
RB1 p.His733Tyr (p.H733Y) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713858.1, ENST00000713857.1 )
RB1 p.Glu737Ter (p.E737*) ( ENST00000650461.1, ENST00000713856.1, ENST00000713858.1, ENST00000713857.1, ENST00000267163.6 )
RB1 p.Glu737= (p.E737=) ( ENST00000267163.6, ENST00000650461.1, ENST00000713858.1, ENST00000713857.1, ENST00000713856.1 )
RB1 c.2212-1G>A ( ENST00000713857.1, ENST00000713856.1, ENST00000267163.6, ENST00000650461.1, ENST00000713858.1 )
RB1 p.Tyr749Ter (p.Y749*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713858.1, ENST00000713857.1 )
RB1 p.Tyr749= (p.Y749=) ( ENST00000713856.1, ENST00000650461.1, ENST00000267163.6, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg787Ter (p.R787*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Tyr790Ter (p.Y790*) ( ENST00000713856.1, ENST00000650461.1, ENST00000267163.6, ENST00000713857.1, ENST00000713858.1 )
RB1 c.2490-1398A>G ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713858.1, ENST00000713857.1 )
RB1 c.2490-1G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.2520+1G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.2663+2T>C ( ENST00000713857.1, ENST00000713858.1, ENST00000713856.1, ENST00000650461.1, ENST00000267163.6 )
RB1 c.-198G>A
RB1 c.-189G>T
RB1 p.Gln35Ter (p.Q35*) ( ENST00000267163.6, ENST00000646097.1, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Trp99Ter (p.W99*) ( ENST00000650461.1, ENST00000267163.6, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Glu137Ter (p.E137*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Ser149Ter (p.S149*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Ser149Leu (p.S149L) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Glu170Ter (p.E170*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.607+1G>T ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg255Ter (p.R255*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Glu313Ter (p.E313*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg320Gly (p.R320G) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg320Ter (p.R320*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Lys341Ter (p.K341*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1049+1G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1049+1G>T ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg358Ter (p.R358*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Leu389Ter (p.L389*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1215+1G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1216-1G>A ( ENST00000650461.1, ENST00000267163.6, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1332+1G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1332+1G>T ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg445Ter (p.R445*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Gly449Val (p.G449V) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg455Ter (p.R455*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg467Ter (p.R467*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Leu491Pro (p.L491P) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg552Ter (p.R552*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg556Ter (p.R556*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Trp563Ter (p.W563*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1695+1G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1696-1G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Ser567Leu (p.S567L) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Gln575Ter (p.Q575*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg579Ter (p.R579*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Glu580Ter (p.E580*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Tyr606Ter (p.Y606*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Gln637Ter (p.Q637*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Leu642Ter (p.L642*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Lys643Glu (p.K643E) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1960+2T>C ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1960+5G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.1961-2A>T ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Ala658Asp (p.A658D) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Ala658Val (p.A658V) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg661Trp (p.R661W) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Asp701Asn (p.D701N) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.2107-1G>C ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Cys712Arg (p.C712R) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Lys722Ter (p.K722*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.His733Tyr (p.H733Y) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Glu737Ter (p.E737*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Glu737= (p.E737=) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.2212-1G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Tyr749Ter (p.Y749*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Tyr749= (p.Y749=) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg787Ter (p.R787*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Tyr790Ter (p.Y790*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.2490-1398A>G ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.2490-1G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.2520+1G>A ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 c.2663+2T>C ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Ala22GlyfsTer51 (p.A22Gfs*51)
RB1 p.Leu76PhefsTer36 (p.L76Ffs*36)
RB1 p.Tyr155LeufsTer2 (p.Y155Lfs*2)
RB1 p.Asn295LysfsTer15 (p.N295Kfs*15)
RB1 p.Gln383ProfsTer12 (p.Q383Pfs*12)
RB1 p.Gln471IlefsTer11 (p.Q471Ifs*11)
RB1 p.Tyr529LeufsTer26 (p.Y529Lfs*26)
RB1 p.Ile744LeufsTer8 (p.I744Lfs*8)
RB1 p.Glu843Ter (p.E843*)
RB1 p.Ala22GlyfsTer51 (p.A22Gfs*51)
RB1 p.Leu76PhefsTer36 (p.L76Ffs*36)
RB1 p.Tyr155LeufsTer2 (p.Y155Lfs*2)
RB1 p.Asn295LysfsTer15 (p.N295Kfs*15)
RB1 p.Gln383ProfsTer12 (p.Q383Pfs*12)
RB1 p.Gln471IlefsTer11 (p.Q471Ifs*11)
RB1 p.Tyr529LeufsTer26 (p.Y529Lfs*26)
RB1 p.Ile744LeufsTer8 (p.I744Lfs*8)
RB1 p.Glu843Ter (p.E843*)
Associated Disease
retinoblastoma
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.499992532686291
Year of publication
NA
Drugs