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.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del pathogenic r.? p.? Unknown g.(47600710_47600946)_(47710089_?)del - deletion EPCAM exon 3 to MSH2 exon 16 (*272_?) - EPCAM_000006 - Desiree du Sart - - Germline - - - 0 - DNA MLPA - - ? - {microatt:1003310, Desiree du Sart} - - - - - - 0 - - 1 INSiGHT group
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del pathogenic r.? p.? Unknown g.(47600710_47600946)_(47710089_?)del - c.185-?_*272+?del [5'UTR_EX16del/EPCAM EX3_3'UTRdel] - EPCAM_000006 - - - - De novo - - - 0 - DNA SEQ - screen date 2014-01-01 cancer, rectal - - - M - - - - 0 - - 1 Ian Frayling
?/. 2i_9_ c.(184+1_185-1)_(*415_?)del VUS r.? p.? Unknown g.(47600710_47600946)_(47710089_?)del - c.185-?_945+?del - EPCAM_000006 - PubMed: Lagerstedt-RobinsonĀ et al. 2016 - - Germline - - - 0 - DNA SEQ - - HNPCC 27601186-Pat PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
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