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.

15 entries on 1 page. Showing entries 1 - 15.
Legend   How to query  

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     
+/. 5i c.556-14A>G r.(=) p.(=) Both (homozygous) ACMG pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - DIAR-5 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+/. 5i c.556-14A>G r.spl p.(=) Parent #2 - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Sivagnanam 2008; Schnell 2013 - - Germline - - - 0 - DNA SEQ - - DIAR - Sivagnanam 2008; Schnell 2013 - M no Russia - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) Both (homozygous) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 24 Salomon 2014 - F - Morocco - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) Both (homozygous) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 25 Salomon 2014 - M - Morocco - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) Both (homozygous) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 26 Salomon 2014 - F - Algeria - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) Both (homozygous) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 27 Salomon 2014 - F - Algeria - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) Both (homozygous) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 28 Salomon 2014 - M - Portugal - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) Parent #1 - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 unknown variant 2nd allele Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 29 Salomon 2014 - M - Morocco - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) Both (homozygous) - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Pegas 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Pegas 2014 - F - Brazil - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(Tyr186_Asp219del) Parent #2 - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 5,1 Sivagnanam, submitted - M - Bangladesh - - 0 - - 2 Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(Tyr186_Asp219del) Parent #2 - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 5,2 Sivagnanam, submitted - M - Bangladesh - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) Parent #1 - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 30,1 Salomon 2014 - F - Italy - - 0 - - 2 Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) Parent #1 - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 30,2 Salomon 2014 - M - Italy - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) Parent #1 - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - d'Apolito 2016 - - Germline - - - 0 - DNA SEQ - - DIAR 2 d'Apolito 2016 - M - Italy - - 0 - - 1 Mamata Sivagnanam
+/. 5i c.556-14A>G r.spl p.(=) Parent #1 - pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 - d'Apolito 2016 - - Germline - - - 0 - DNA SEQ - - DIAR 3 d'Apolito 2016 - F - Italy - - 0 - - 1 Mamata Sivagnanam
Legend   How to query