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.

15 entries on 1 page. Showing entries 1 - 15.
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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.556-14A>G r.(=) p.(=) ACMG pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano
+/. 5i c.556-14A>G r.spl p.(=) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Sivagnanam 2008; Schnell 2013 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 unknown variant 2nd allele Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Pegas 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(Tyr186_Asp219del) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(Tyr186_Asp219del) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - d'Apolito 2016 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - d'Apolito 2016 - - Germline - - - 0 - Mamata Sivagnanam
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