Annotation Detail

Information
Associated Genes
CDH1
Associated Variants
CDH1 p.Tyr68IlefsTer15 (p.Y68Ifs*15) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Ser337PhefsTer12 (p.S337Ffs*12) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 c.1711+2_1711+7delTAAGGG ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Leu667SerfsTer12 (p.L667Sfs*12) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Cys688Ter (p.C688*) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Phe810LeufsTer6 (p.F810Lfs*6) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Tyr68IlefsTer15 (p.Y68Ifs*15) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Ser337PhefsTer12 (p.S337Ffs*12) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 c.1711+2_1711+7delTAAGGG ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Leu667SerfsTer12 (p.L667Sfs*12) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Cys688Ter (p.C688*) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Phe810LeufsTer6 (p.F810Lfs*6) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Trp20Ter (p.W20*) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Glu26Ter (p.E26*) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 c.387+1G>A ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Ser236Ter (p.S236*) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Gly239Arg (p.G239R) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Arg335Gly (p.R335G) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Arg335Ter (p.R335*) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Thr340Ala (p.T340A) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Thr340Ser (p.T340S) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Pro373Leu (p.P373L) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Thr379= (p.T379=) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 c.1137+2T>C ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Gln383Ter (p.Q383*) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 c.1565+1G>A ( ENST00000261769.10, ENST00000422392.6 )
CDH1 c.1565+1G>T ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Gly571Ser (p.G571S) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Ala617Thr (p.A617T) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Gln641Ter (p.Q641*) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Leu711Val (p.L711V) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Glu758Lys (p.E758K) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Val832Met (p.V832M) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Val832Leu (p.V832L) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Ser838Gly (p.S838G) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Trp20Ter (p.W20*) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Glu26Ter (p.E26*) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 c.387+1G>A ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Ser236Ter (p.S236*) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Gly239Arg (p.G239R) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Arg335Gly (p.R335G) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Arg335Ter (p.R335*) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Thr340Ala (p.T340A) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Thr340Ser (p.T340S) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Pro373Leu (p.P373L) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Thr379= (p.T379=) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 c.1137+2T>C ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Gln383Ter (p.Q383*) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 c.1565+1G>A ( ENST00000261769.10, ENST00000422392.6 )
CDH1 c.1565+1G>T ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Gly571Ser (p.G571S) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Ala617Thr (p.A617T) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Gln641Ter (p.Q641*) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Leu711Val (p.L711V) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Glu758Lys (p.E758K) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Val832Met (p.V832M) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Val832Leu (p.V832L) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Ser838Gly (p.S838G) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Asn174LysfsTer25 (p.N174Kfs*25)
CDH1 p.Asp662Ter (p.D662*)
CDH1 p.Asn174LysfsTer25 (p.N174Kfs*25)
CDH1 p.Asp662Ter (p.D662*)
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
0.122724350242467
Year of publication
NA
Drugs