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.

7 entries on 1 page. Showing entries 1 - 7.
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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     
+?/. - c.307G>A r.(?) p.(Gly103Arg) - likely pathogenic g.47601069G>A g.47373930G>A EPCAM(NM_002354.2):c.307G>A (p.G103R) - EPCAM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.307G>A r.(?) p.(Gly103Arg) - pathogenic g.47601069G>A g.47373930G>A EPCAM(NM_002354.2):c.307G>A (p.G103R) - EPCAM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 3 c.307G>A r.(?) p.(Gly103Arg) - pathogenic g.47601069G>A g.47373930G>A - - EPCAM_000013 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.307G>A r.(?) p.(Gly103Arg) - pathogenic g.47601069G>A g.47373930G>A - - EPCAM_000013 - Tang 2016 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.307G>A r.(?) p.(Gly103Arg) - pathogenic g.47601069G>A g.47373930G>A - - EPCAM_000013 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
?/. - c.307G>A r.(?) p.(Gly103Arg) - NA g.47601069G>A - chr2_47601069_G_A - EPCAM_000013 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.307G>A r.(?) p.(Gly103Arg) - NA g.47601069G>A - chr2_47601069_G_A - EPCAM_000013 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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