All variants in the EPCAM gene


NOTE: alias for geneID is TACSTD1
Information The variants shown are described using the NM_002354.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 5 c.499dup r.(?) p.(Gln167Profs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - AlMahamed 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - AlMahamed 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
Legend   How to query