All transcript variants in gene EPCAM


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

226 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/. _7_9_ c.? pathogenic (dominant) r.? p.? g.? g.? - - EPCAM_000000 - PubMed: Huth 2012 - - Germline - - - 0 - Mamata Sivagnanam
+/. _7_9_ c.? pathogenic (dominant) r.? p.? g.? g.? - - EPCAM_000000 - PubMed: Huth 2012 - - Germline - - - 0 - Mamata Sivagnanam
+/. _7_9_ c.? pathogenic (dominant) r.? p.? g.? g.? - - EPCAM_000000 - PubMed: Huth 2012 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.? pathogenic (dominant) r.? p.? g.? g.? - - EPCAM_000000 - PubMed: Rumilla 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. - unspecified deletion pathogenic (dominant) r.? p.? g.? g.? - - EPCAM_000000 - PubMed: Nagasaka 2010 - - Germline - - - 0 - Mamata Sivagnanam
+/. - unspecified deletion pathogenic (dominant) r.? p.? g.? g.? - - EPCAM_000000 - PubMed: Nagasaka 2010 - - Germline - - - 0 - Mamata Sivagnanam
+/. - unspecified deletion pathogenic (dominant) r.? p.? g.? g.? - - EPCAM_000000 - PubMed: Nagasaka 2010 - - Germline - - - 0 - Mamata Sivagnanam
+/. _1_4i c.(?_-1)_(491+1_492-1)del pathogenic r.0 p.0 g.(?_47596644)_(47602439_47604152)del - del Ex1-4 - EPCAM_000031 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. _1_4i c.(?_-1)_(491+1_492-1)del pathogenic r.0 p.0 g.(?_47596644)_(47602439_47604152)del - Exon1-4F - EPCAM_000031 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. _1_7i c.(?_-1)_(858+1_859-1)del pathogenic r.0 p.0 g.(?_47596644)_(47607109_47612304)del - del Ex1-7 - EPCAM_000032 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. _1_9_ c.(?_-1)_(*1_?)del pathogenic r.0 p.0 g.(?_47596644)_(47613753_?)del - del EpCAM - EPCAM_000033 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. _1_9_ c.(?_-1)_(*1_?)del pathogenic r.0 p.0 g.(?_47596644)_(47613753_?)del - del EpCAM - EPCAM_000033 - AlMahamed 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. _1_9_ c.(?_-1)_(*1_?)del pathogenic (dominant) r.0 p.0 g.(?_47596644)_(47643569_47656880)del g.? - - EPCAM_000005 - PubMed: Rossi 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. _1_9_ c.(_-1)_(*415_?)del pathogenic (dominant) r.? p.? g.(?_47596644)_(47639700_47641407)del g.(?_47369505)_(47412561_47414268)del - - EPCAM_000064 56290 bp deletion PubMed: Villacis 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.? pathogenic (dominant) r.? p.? g.? g.? - - EPCAM_000000 deletion includes exon 8, 9 and 3kb PubMed: Rumilla 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 1 c.1A>C pathogenic r.(?) p.0? g.47596645A>C - M1L - EPCAM_000060 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. - c.13C>T pathogenic r.(?) p.(Gln5*) g.47596657C>T - EPCAM:c.13C>T (Q5*) - EPCAM_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 1 c.38_62dup pathogenic r.(?) p.(Ala22Cysfs*17) g.47596682_47596706dup - 38_62dup25 - EPCAM_000051 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 1 c.48_68del pathogenic r.(?) p.(Thr17_Ala23del) g.47596692_47596712del - 47_67del21 - EPCAM_000050 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
-?/. - c.77-20del likely benign r.(=) p.(=) g.47600582del - EPCAM:c.77-20delT - EPCAM_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.77-11T>A benign r.(=) p.(=) g.47600591T>A - EPCAM:c.77-11T>A - EPCAM_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. 1i_5i c.(76+1_77-1)_(555+1_556-1)del pathogenic r.? p.? g.(47596721_47600601)_(47604217_47606091)del - del Ex2-5 - EPCAM_000034 - Tang 2016 - - Germline - - - 0 - Mamata Sivagnanam
+/. 2 c.113G>A pathogenic r.(?) p.(Cys38Tyr) g.47600638G>A - - - EPCAM_000059 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 2 c.139C>T pathogenic r.(?) p.0? g.47600664C>T - - - EPCAM_000040 unknown variant 2nd allele Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
-?/. - c.171C>A likely benign r.(=) p.(=) g.47600696C>A - EPCAM:c.171C>A (=) - EPCAM_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. _3_9_ c.(?_185-1)_(*415_?)del pathogenic (dominant) r.? p.? g.(?_47600946)_(47614167_?)del g.? - - EPCAM_000000 deletion includes at least exons 3, 8, 9 PubMed: Huth 2012 - - Germline - - - 0 - Mamata Sivagnanam
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del pathogenic r.? p.? g.(47600710_47600946)_(47710089_?)del - deletion EPCAM exon 3 to MSH2 exon 16 (*272_?) - EPCAM_000006 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del pathogenic r.? p.? g.(47600710_47600946)_(47710089_?)del - c.185-?_*272+?del [5'UTR_EX16del/EPCAM EX3_3'UTRdel] - EPCAM_000006 - - - - De novo - - - 0 - Ian Frayling
?/. 2i_9_ c.(184+1_185-1)_(*415_?)del VUS r.? p.? g.(47600710_47600946)_(47710089_?)del - c.185-?_945+?del - EPCAM_000006 - PubMed: Lagerstedt-Robinson et al. 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. 3 c.197G>A pathogenic r.(?) p.(Cys66Tyr) g.47600959G>A - - - EPCAM_000056 - Sivagnanam 2008; Schnell 2013 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.227C>G pathogenic r.(?) p.(Ser76*) g.47600989C>G - - - EPCAM_000039 - Theoni 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.227C>G pathogenic r.(?) p.(Ser76*) g.47600989C>G - - - EPCAM_000039 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.227C>G pathogenic r.(?) p.(Ser76*) g.47600989C>G - - - EPCAM_000039 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.265C>T pathogenic r.(?) p.(Gln89*) g.47601027C>T - - - EPCAM_000038 - Shakhnovic 2014 - - Germline - - - 0 - Mamata Sivagnanam
-?/. - c.267G>C likely benign r.(?) p.(Gln89His) g.47601029G>C - EPCAM:c.267G>C (Q89H) - EPCAM_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. 3 c.267G>C pathogenic r.(?) p.(Gln89His) g.47601029G>C - - - EPCAM_000012 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+?/. - c.307G>A likely pathogenic r.(?) p.(Gly103Arg) g.47601069G>A - EPCAM:c.307G>A (G103R) - EPCAM_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.307G>A pathogenic r.(?) p.(Gly103Arg) g.47601069G>A - EPCAM:c.307G>A (G103R) - EPCAM_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 3 c.307G>A pathogenic r.(?) p.(Gly103Arg) g.47601069G>A - - - EPCAM_000013 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.307G>A pathogenic r.(?) p.(Gly103Arg) g.47601069G>A - - - EPCAM_000013 - Tang 2016 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.307G>A pathogenic r.(?) p.(Gly103Arg) g.47601069G>A - - - EPCAM_000013 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.314T>G pathogenic r.(?) p.(Phe105Cys) g.47601076T>G - - - EPCAM_000041 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.316A>T pathogenic r.(?) p.(Lys106*) g.47601078A>T - - - EPCAM_000057 - Ko 2010 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.316A>T pathogenic r.(?) p.(Lys106*) g.47601078A>T - - - EPCAM_000057 - Ko 2010 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.321del pathogenic r.(?) p.(Lys108Serfs*12) g.47601083del - 321delC - EPCAM_000042 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
-/. - c.344T>C benign r.(?) p.(Met115Thr) g.47601106T>C - EPCAM:c.344T>C (M115T) - EPCAM_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. 3 c.344T>C benign r.(?) p.(Met115Thr) g.47601106T>C - - - EPCAM_000014 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
+/. 3 c.352_368del pathogenic r.(?) p.(Cys118Glyfs*9) g.47601114_47601130del - - - EPCAM_000043 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.352_368del pathogenic r.(?) p.(Cys118Glyfs*9) g.47601114_47601130del - - - EPCAM_000043 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.359A>T pathogenic r.(?) p.(Asn120Ile) g.47601121A>T - - - EPCAM_000044 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.380C>T pathogenic r.(?) p.(Thr127Ile) g.47601142C>T - - - EPCAM_000045 unknown variant 2nd allele Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.394G>T pathogenic r.(?) p.(Glu132*) g.47601156G>T - - - EPCAM_000046 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.412C>T pathogenic r.(?) p.(Arg138*) g.47601174C>T - - - EPCAM_000036 - Sivagnanam 2010 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.412C>T pathogenic r.(?) p.(Arg138*) g.47601174C>T - - - EPCAM_000036 - AlMahamed 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3i_9_ c.426-544_*3904del pathogenic (dominant) r.? p.? g.47601829_47617656del g.47374690_47390518del - - EPCAM_000066 15828 bp deletion C_AluSq to C_AluSz6 PubMed: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3i c.426-1G>A pathogenic r.spl p.? g.47602372G>A - - - EPCAM_000035 - Sivagnanam 2008 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3i c.426-1G>A pathogenic r.spl p.? g.47602372G>A - - - EPCAM_000035 - Shakhnovic 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4 c.437T>A pathogenic r.(?) p.(Ile146Asn) g.47602384T>A - - - EPCAM_000049 unknown variant 2nd allele d'Apolito 2016 - - Germline - - - 0 - Mamata Sivagnanam
-?/. - c.442_*440del likely benign r.? p.? g.47602389_47614192del - EPCAM:NM_002354.2:c.*440_442del (?) - EPCAM_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 4 c.467del pathogenic r.(?) p.(Pro156Leufs*54) g.47602414del - 467delC - EPCAM_000058 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del g.47602439G>A g.47375300G>A IVS4+1G>A - EPCAM_000003 SNP homozygosity mapping; RNA duodenal; IHC intestinal tissue EPCAM decreased PubMed: Sivagnanam 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 4i c.491+1G>A pathogenic r.spl p.? g.47602439G>A - - - EPCAM_000003 - Sivagnanam 2008 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.spl p.? g.47602439G>A - - - EPCAM_000003 - Sivagnanam 2008 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.spl p.? g.47602439G>A - - - EPCAM_000003 - Ko 2010 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.spl p.? g.47602439G>A - - - EPCAM_000003 - Ko 2010 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i_9_ c.491+529_*874del pathogenic (dominant) r.? p.? g.47602967_47614626del g.47375828_47387488del - - EPCAM_000067 11660 bp deletion C_AluSg4 to C_AluSg4 PubMed: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i_9_ c.491+529_*874del pathogenic (dominant) r.? p.? g.47602967_47614626del g.47375828_47387488del - - EPCAM_000067 11660 bp deletion C_AluSg4 to C_AluSg4 PubMed: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i_9_ c.492-509_*13721del pathogenic (dominant) r.? p.? g.47603644_47627473del g.47376505_47400335del - - EPCAM_000068 23830 bp deletion C_AluSp to C_AluSx1 PubMed: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i_9_ c.492-509_*13721del pathogenic (dominant) r.? p.? g.47603644_47627473del g.47376505_47400335del AC079775.6:g.71494_95323delins9 - EPCAM_000068 23830 bp deletion C_AluSp to C_AluSx1 PubMed: Van der Klift 2005 - - Germline - - - 0 - Mamata Sivagnanam
-/. - c.492-5T>C benign r.spl? p.? g.47604148T>C - EPCAM:c.492-5T>C - EPCAM_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. 4i c.492-5T>C pathogenic r.spl? p.? g.47604148T>C - - - EPCAM_000015 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? g.47604151A>G - - - EPCAM_000037 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? g.47604151A>G - - - EPCAM_000037 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? g.47604151A>G - - - EPCAM_000037 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? g.47604151A>G - - - EPCAM_000037 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? g.47604151A>G - - - EPCAM_000037 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? g.47604151A>G - - - EPCAM_000037 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? g.47604151A>G - - - EPCAM_000037 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.492-1G>A pathogenic r.spl p.? g.47604152G>A - - - EPCAM_000047 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.492-1G>A pathogenic r.spl p.? g.47604152G>A - - - EPCAM_000047 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i_5i c.(491+1_492-1)_(555+1_556-1)del pathogenic r.(492_555del) p.(Ala165Metfs*24) g.(47602439_47604152)_(47604217_47606091)del - - - EPCAM_000030 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. - c.499dup pathogenic r.(?) p.(Gln167Profs*21) g.47604160dup - EPCAM:NM_002354.2:c.499dup (Gln167fs) - EPCAM_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Profs*21) g.47604160dup - 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) g.47604160dup - 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) g.47604160dup - 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) g.47604160dup - 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
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