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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 3i c.426-1G>A pathogenic r.spl p.? Both (homozygous) g.47602372G>A - - - EPCAM_000035 - Sivagnanam 2008 - - Germline - - - 0 - DNA SEQ - - DIAR - Sivagnanam 2008 - M yes Canada Native Canadian - 0 - - 1 Mamata Sivagnanam
+/. 3i c.426-1G>A pathogenic r.spl p.? Parent #1 g.47602372G>A - - - EPCAM_000035 - Shakhnovic 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Shakhnovic 2014 - M no - white - 0 - - 1 Mamata Sivagnanam
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