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.

2 entries on 1 page. Showing entries 1 - 2.
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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_9_ c.555+926_*14226del r.-358_555::NM_000251.2:r.212_*279 p.Tyr186Glufs*13 - pathogenic g.47605142_47627978del g.47378003_47400839del c.555+894_*14194del - EPCAM_000002 linked family, 22.8 Kb deletion; fusion transcript EPCAM/MSH2; MSH2 promoter methylation; haplotype differs from FamHK-A PubMed: Ligtenberg 2009 - - Germline yes - - 0 - Johan den Dunnen
+/. 5i_9_ c.555+926_*14226del r.556_*405delinsNM_000251.2:c.212_*272 p.Tyr186Glufs*13 - pathogenic g.47605142_47627978del g.47378003_47400839del c.555+894_*14194del - EPCAM_000002 haplotype differs from FamHK-A; fusion transcript EPCAM/MSH2 PubMed: Ligtenberg 2009 - - Germline - - - 0 - Johan den Dunnen
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