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.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2 c.139C>T r.(?) p.0? Parent #1 - pathogenic g.47600664C>T g.47373525C>T - - EPCAM_000040 unknown variant 2nd allele Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Salomon 2014 - F - Italy - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.555+1G>C r.spl p.? Parent #2 - pathogenic g.47604217G>C g.47377078G>C - - EPCAM_000040 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 3 Salomon 2014 - M - Italy - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.555+1G>C r.spl p.? Both (homozygous) - pathogenic g.47604217G>C g.47377078G>C - - EPCAM_000040 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 22 Salomon 2014 - M - Turkey - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.555+1G>C r.spl p.? Both (homozygous) - pathogenic g.47604217G>C g.47377078G>C - - EPCAM_000040 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 23 Salomon 2014 - F - Turkey - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.555+1G>C r.spl p.(Ala165Metfs*23) Both (homozygous) - pathogenic g.47604217G>C g.47377078G>C - - EPCAM_000040 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 8 Sivagnanam, submitted - F - Turkey - - 0 - - 1 Mamata Sivagnanam
?/. - c.555+1G>C r.spl? p.? Parent #1 - NA g.47604217G>C - chr2_47604217_G_C - EPCAM_000040 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
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