Annotation Detail
Information
- Associated Genes
- SMAD4
- Associated Variants
-
SMAD4 p.Cys363del (p.C363del)
(
ENST00000342988.8,
ENST00000398417.6,
ENST00000588745.5,
ENST00000588860.6,
ENST00000589076.6,
ENST00000589941.2,
ENST00000590061.2,
ENST00000593223.2,
ENST00000714261.1,
ENST00000714264.1,
ENST00000714266.1,
ENST00000714268.1,
ENST00000714269.1,
ENST00000714270.1,
ENST00000714272.1 )
SMAD4 p.Ser368GlnfsTer9 (p.S368Qfs*9) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Asp415GlufsTer20 (p.D415Efs*20) ( ENST00000593223.2, ENST00000588745.5, ENST00000342988.8, ENST00000398417.6, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Ala532ProfsTer5 (p.A532Pfs*5) ( ENST00000593223.2, ENST00000588860.6, ENST00000714272.1, ENST00000714270.1, ENST00000714269.1, ENST00000714268.1, ENST00000714266.1, ENST00000714264.1, ENST00000714261.1, ENST00000342988.8, ENST00000590061.2, ENST00000398417.6, ENST00000588745.5, ENST00000589941.2, ENST00000589076.6 )
SMAD4 p.Leu533SerfsTer4 (p.L533Sfs*4) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Glu538HisfsTer34 (p.E538Hfs*34) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Cys363del (p.C363del) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Ser368GlnfsTer9 (p.S368Qfs*9) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Asp415GlufsTer20 (p.D415Efs*20) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Ala532ProfsTer5 (p.A532Pfs*5) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Leu533SerfsTer4 (p.L533Sfs*4) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Glu538HisfsTer34 (p.E538Hfs*34) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Leu533SerfsTer4 (p.L533Sfs*4) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Leu533SerfsTer4 (p.L533Sfs*4) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
ENSG00000267699 c.*325G>A, SMAD4 p.Trp101Ter (p.W101*) ( ENST00000342988.8, ENST00000588860.6, ENST00000589941.2, ENST00000588745.5, ENST00000590061.2, ENST00000398417.6, ENST00000714269.1, ENST00000589076.6, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Gly352Arg (p.G352R) ( ENST00000593223.2, ENST00000342988.8, ENST00000588745.5, ENST00000398417.6, ENST00000589076.6, ENST00000714272.1, ENST00000714270.1, ENST00000714269.1, ENST00000714268.1, ENST00000714266.1, ENST00000714264.1, ENST00000714261.1, ENST00000590061.2, ENST00000589941.2, ENST00000588860.6 )
SMAD4 p.Gly352Glu (p.G352E) ( ENST00000593223.2, ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000590061.2, ENST00000589941.2, ENST00000589076.6, ENST00000714272.1, ENST00000714270.1, ENST00000714269.1, ENST00000714268.1, ENST00000714266.1, ENST00000714264.1, ENST00000714261.1, ENST00000588860.6 )
SMAD4 p.Arg361Ser (p.R361S) ( ENST00000588745.5, ENST00000398417.6, ENST00000593223.2, ENST00000589941.2, ENST00000714272.1, ENST00000714261.1, ENST00000714269.1, ENST00000714264.1, ENST00000590061.2, ENST00000714266.1, ENST00000588860.6, ENST00000714268.1, ENST00000342988.8, ENST00000714270.1, ENST00000589076.6 )
SMAD4 p.Arg361Gly (p.R361G) ( ENST00000593223.2, ENST00000714269.1, ENST00000588745.5, ENST00000398417.6, ENST00000342988.8, ENST00000714272.1, ENST00000714261.1, ENST00000714268.1, ENST00000590061.2, ENST00000589941.2, ENST00000589076.6, ENST00000588860.6, ENST00000714270.1, ENST00000714264.1, ENST00000714266.1 )
SMAD4 p.Arg361Cys (p.R361C) ( ENST00000588745.5, ENST00000398417.6, ENST00000342988.8, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Arg361His (p.R361H) ( ENST00000342988.8, ENST00000588745.5, ENST00000593223.2, ENST00000398417.6, ENST00000714264.1, ENST00000590061.2, ENST00000589941.2, ENST00000589076.6, ENST00000588860.6, ENST00000714272.1, ENST00000714270.1, ENST00000714269.1, ENST00000714268.1, ENST00000714266.1, ENST00000714261.1 )
SMAD4 p.Arg361Leu (p.R361L) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Ile383Lys (p.I383K) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Gly386Asp (p.G386D) ( ENST00000588745.5, ENST00000398417.6, ENST00000342988.8, ENST00000593223.2, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Arg445Ter (p.R445*) ( ENST00000593223.2, ENST00000398417.6, ENST00000342988.8, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 c.1447+1G>A ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Leu533Pro (p.L533P) ( ENST00000593223.2, ENST00000714272.1, ENST00000714266.1, ENST00000714264.1, ENST00000714261.1, ENST00000590061.2, ENST00000589941.2, ENST00000589076.6, ENST00000588860.6, ENST00000588745.5, ENST00000398417.6, ENST00000342988.8, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1 )
SMAD4 p.Leu533Arg (p.L533R) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Gln534Ter (p.Q534*) ( ENST00000398417.6, ENST00000588745.5, ENST00000342988.8, ENST00000714270.1, ENST00000714272.1, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1 )
ENSG00000267699 c.*325G>A, SMAD4 p.Trp101Ter (p.W101*) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Gly352Arg (p.G352R) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Gly352Glu (p.G352E) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Arg361Ser (p.R361S) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Arg361Gly (p.R361G) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Arg361Cys (p.R361C) ( ENST00000714266.1, ENST00000714264.1, ENST00000714261.1, ENST00000593223.2, ENST00000590061.2, ENST00000589941.2, ENST00000589076.6, ENST00000588860.6, ENST00000588745.5, ENST00000398417.6, ENST00000342988.8, ENST00000714270.1, ENST00000714272.1, ENST00000714269.1, ENST00000714268.1 )
SMAD4 p.Arg361His (p.R361H) ( ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000398417.6, ENST00000342988.8, ENST00000588745.5, ENST00000590061.2 )
SMAD4 p.Arg361Leu (p.R361L) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Ile383Lys (p.I383K) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Gly386Asp (p.G386D) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Arg445Ter (p.R445*) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 c.1447+1G>A ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Leu533Pro (p.L533P) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Leu533Arg (p.L533R) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Gln534Ter (p.Q534*) ( ENST00000589076.6, ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Ser232GlnfsTer3 (p.S232Qfs*3)
SMAD4 p.Leu529PhefsTer9 (p.L529Ffs*9)
SMAD4 p.His530ThrfsTer47 (p.H530Tfs*47)
SMAD4 p.Ser232GlnfsTer3 (p.S232Qfs*3)
SMAD4 p.Leu529PhefsTer9 (p.L529Ffs*9)
SMAD4 p.His530ThrfsTer47 (p.H530Tfs*47) - Associated Disease
- JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.361085767488321
- Year of publication
- NA
Drugs