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     
+/. _1_4i c.(?_-1)_(491+1_492-1)del r.0 p.0 - pathogenic g.(?_47596644)_(47602439_47604152)del - del Ex1-4 - EPCAM_000031 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
+/. _1_4i c.(?_-1)_(491+1_492-1)del r.0 p.0 - pathogenic g.(?_47596644)_(47602439_47604152)del - Exon1-4F - EPCAM_000031 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
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