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.

13 entries on 1 page. Showing entries 1 - 13.
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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     
+/. 4i c.491+1G>A r.426_491del p.Trp143_Thr164del - pathogenic 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 r.spl p.? - pathogenic g.47602439G>A g.47375300G>A - - EPCAM_000003 - Sivagnanam 2008 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A r.spl p.? - pathogenic g.47602439G>A g.47375300G>A - - EPCAM_000003 - Sivagnanam 2008 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A r.spl p.? - pathogenic g.47602439G>A g.47375300G>A - - EPCAM_000003 - Ko 2010 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A r.spl p.? - pathogenic g.47602439G>A g.47375300G>A - - EPCAM_000003 - Ko 2010 - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A r.426_491del p.Trp143_Thr164del - pathogenic g.47602439G>A g.47375300G>A - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A r.426_491del p.Trp143_Thr164del - pathogenic g.47602439G>A g.47375300G>A - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A r.426_491del p.Trp143_Thr164del - pathogenic g.47602439G>A g.47375300G>A - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A r.426_491del p.Trp143_Thr164del - pathogenic g.47602439G>A g.47375300G>A - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 4i c.491+1G>A r.426_491del p.Trp143_Thr164del - pathogenic g.47602439G>A g.47375300G>A - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. - c.491+1G>A r.spl? p.? - pathogenic g.47602439G>A g.47375300G>A - - EPCAM_000003 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs606231203 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.491+1G>A r.spl? p.? - NA g.47602439G>A - chr2_47602439_G_A - EPCAM_000003 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.491+1G>A r.spl? p.? - NA g.47602439G>A - chr2_47602439_G_A - EPCAM_000003 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - BRIDGES consortium
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