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.

10 entries on 1 page. Showing entries 1 - 10.
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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     
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del Both (homozygous) g.47602439G>A g.47375300G>A IVS4+1G>A - EPCAM_000003 SNP homozygosity mapping; RNA duodenal; IHC intestinal tissue EPCAM decreased PubMed: Sivagnanam 2008 - - Germline - - - 0 - DNA, RNA arraySNP, RT-PCR, SEQ - - ? - PubMed: Sivagnanam 2008 2 affecteds, double second cousins - yes (United States) - - 0 - - 2 Johan den Dunnen
+/. 4i c.491+1G>A pathogenic r.spl p.? Both (homozygous) g.47602439G>A - - - EPCAM_000003 - Sivagnanam 2008 - - Germline - - - 0 - DNA SEQ - - DIAR P1 Sivagnanam 2008 - M no - Mexican-American - 0 - - 1 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.spl p.? Both (homozygous) g.47602439G>A - - - EPCAM_000003 - Sivagnanam 2008 - - Germline - - - 0 - DNA SEQ - - DIAR P2 Sivagnanam 2008 - M no - Mexican-American - 0 - - 1 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.spl p.? Parent #2 g.47602439G>A - - - EPCAM_000003 - Ko 2010 - - Germline - - - 0 - DNA SEQ - - DIAR 1,1 Ko 2010 - F no Korea, South (Republic) - - 0 - - 2 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.spl p.? Parent #2 g.47602439G>A - - - EPCAM_000003 - Ko 2010 - - Germline - - - 0 - DNA SEQ - - DIAR 1,2 Ko 2010 - M no Korea, South (Republic) - - 0 - - 1 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del Parent #2 g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 6 Sivagnanam, submitted - M - - Hispanic - 0 - - 1 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del Parent #2 g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 11,1 Sivagnanam, submitted - M - - - - 0 - - 2 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del Parent #2 g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 11,2 Sivagnanam, submitted - M - - - - 0 - - 1 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del Parent #1 g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 5,1 Sivagnanam, submitted - M - Bangladesh - - 0 - - 2 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del Parent #1 g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 5,2 Sivagnanam, submitted - M - Bangladesh - - 0 - - 1 Mamata Sivagnanam
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