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.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. 5i c.555+1G>C r.spl p.? - pathogenic g.47604217G>C g.47377078G>C - - EPCAM_000040 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.555+1G>C r.spl p.? - pathogenic g.47604217G>C g.47377078G>C - - EPCAM_000040 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.555+1G>C r.spl p.? - pathogenic g.47604217G>C g.47377078G>C - - EPCAM_000040 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.555+1G>C r.spl p.(Ala165Metfs*23) - pathogenic g.47604217G>C g.47377078G>C - - EPCAM_000040 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
?/. - c.555+1G>C r.spl? p.? - NA g.47604217G>C - chr2_47604217_G_C - EPCAM_000040 not in 60466 cases; 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 - 1/53461 controls - 0 - BRIDGES consortium
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