Full data view for gene EPCAM


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

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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ID_report     

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+/. _7_9_ c.? pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Huth 2012 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 22388758-Pat1/2 PubMed: Huth 2012 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. _7_9_ c.? pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Huth 2012 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 22388758-Pat3 PubMed: Huth 2012 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. _7_9_ c.? pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Huth 2012 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 22388758-Pat5 PubMed: Huth 2012 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. 7i_9_ c.? pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Rumilla 2011 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 21227399-? PubMed: Rumilla 2011 6 patients - - - - - 0 - - 1 Mamata Sivagnanam
+/. - unspecified deletion pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Nagasaka 2010 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 20388775-C15 PubMed: Nagasaka 2010 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. - unspecified deletion pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Nagasaka 2010 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 20388775-C17 PubMed: Nagasaka 2010 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. - unspecified deletion pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Nagasaka 2010 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 20388775-C31 PubMed: Nagasaka 2010 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. 7i_9_ c.? pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 deletion includes exon 8, 9 and 3kb PubMed: Rumilla 2011 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 21227399-? PubMed: Rumilla 2011 5 patients - - - - - 0 - - 1 Mamata Sivagnanam
+/. _3_9_ c.(?_185-1)_(*415_?)del pathogenic (dominant) r.? p.? Unknown g.(?_47600946)_(47614167_?)del g.? - - EPCAM_000000 deletion includes at least exons 3, 8, 9 PubMed: Huth 2012 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 22388758-Pat4 PubMed: Huth 2012 - - - - - - 0 - - 1 Mamata Sivagnanam
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