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.

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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     
+/. 4i_5i c.(491+1_492-1)_(555+1_556-1)del r.(492_555del) p.(Ala165Metfs*24) - pathogenic g.(47602439_47604152)_(47604217_47606091)del - - - EPCAM_000030 - Salomon 2014 - - Germline - - - 0 - Mamata Sivagnanam
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