Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Ser299CysfsTer27 (p.S299Cfs*27)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.His1054GlnfsTer2 (p.H1054Qfs*2) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Glu1309AspfsTer4 (p.E1309Dfs*4) ( ENST00000507379.6, ENST00000508376.6, ENST00000257430.9, ENST00000504915.3, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Ser1419AlafsTer54 (p.S1419Afs*54) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Ser299CysfsTer27 (p.S299Cfs*27) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.His1054GlnfsTer2 (p.H1054Qfs*2) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, 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.Ser1419AlafsTer54 (p.S1419Afs*54) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Arg232Ter (p.R232*) ( ENST00000512211.7, ENST00000507379.6, ENST00000257430.9, ENST00000508376.6, ENST00000504915.3, ENST00000509732.6, 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.Tyr935Ter (p.Y935*) ( ENST00000507379.6, ENST00000257430.9, ENST00000508376.6, ENST00000512211.7, ENST00000504915.3, ENST00000509732.6, ENST00000713638.1, ENST00000713639.1 )
APC p.Tyr935Ter (p.Y935*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Tyr935= (p.Y935=) ( ENST00000507379.6, ENST00000257430.9, ENST00000504915.3, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Ser2621Cys (p.S2621C) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Arg232Ter (p.R232*) ( ENST00000713639.1, ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1 )
APC p.Arg414Cys (p.R414C) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Tyr935Ter (p.Y935*) ( ENST00000509732.6, ENST00000507379.6, ENST00000508376.6, ENST00000257430.9, ENST00000504915.3, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Tyr935Ter (p.Y935*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Tyr935= (p.Y935=) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Ser2621Cys (p.S2621C) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Arg640ThrfsTer11 (p.R640Tfs*11)
APC p.Arg640ThrfsTer11 (p.R640Tfs*11) - Associated Disease
- Adenomatous Polyposis Coli
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.776808767486449
- Year of publication
- NA
Drugs