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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del r.? p.? - pathogenic g.(47600710_47600946)_(47710089_?)del - deletion EPCAM exon 3 to MSH2 exon 16 (*272_?) - EPCAM_000006 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del r.? p.? - pathogenic g.(47600710_47600946)_(47710089_?)del - c.185-?_*272+?del [5'UTR_EX16del/EPCAM EX3_3'UTRdel] - EPCAM_000006 - - - - De novo - - - 0 - Ian Frayling
?/. 2i_9_ c.(184+1_185-1)_(*415_?)del r.? p.? - VUS g.(47600710_47600946)_(47710089_?)del - c.185-?_945+?del - EPCAM_000006 - PubMed: Lagerstedt-RobinsonĀ et al. 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
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