Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Glu1309AspfsTer4 (p.E1309Dfs*4)
(
ENST00000507379.6,
ENST00000508376.6,
ENST00000257430.9,
ENST00000504915.3,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Ser1465TrpfsTer3 (p.S1465Wfs*3) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Glu1538IlefsTer5 (p.E1538Ifs*5) ( ENST00000512211.7, ENST00000508376.6, ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000713638.1, ENST00000509732.6, ENST00000713639.1 )
APC p.Glu1309AspfsTer4 (p.E1309Dfs*4) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Ser1465TrpfsTer3 (p.S1465Wfs*3) ( ENST00000713638.1, ENST00000713639.1, ENST00000504915.3, ENST00000257430.9, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7 )
APC p.Glu1538IlefsTer5 (p.E1538Ifs*5) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Gln208Lys (p.Q208K) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Gln208Ter (p.Q208*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Ser280Ter (p.S280*) ( ENST00000512211.7, ENST00000507379.6, ENST00000508376.6, ENST00000257430.9, ENST00000504915.3, ENST00000509732.6, ENST00000713638.1, ENST00000713639.1 )
APC p.Arg302Ter (p.R302*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Arg414Cys (p.R414C) ( ENST00000504915.3, ENST00000257430.9, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Arg499Gly (p.R499G) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Arg499Ter (p.R499*) ( ENST00000512211.7, ENST00000504915.3, ENST00000257430.9, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000713638.1, ENST00000713639.1 )
APC p.Leu698Ter (p.L698*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Ser713Ter (p.S713*) ( ENST00000713638.1, ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713639.1 )
APC p.Gln208Lys (p.Q208K) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Gln208Ter (p.Q208*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Ser280Ter (p.S280*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Arg302Ter (p.R302*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Arg414Cys (p.R414C) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Arg499Gly (p.R499G) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Arg499Ter (p.R499*) ( ENST00000257430.9, ENST00000507379.6, ENST00000508376.6, ENST00000504915.3, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Leu698Ter (p.L698*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Ser713Ter (p.S713*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Gardner syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.244810008827325
- Year of publication
- NA
Drugs