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)     

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     
+/. 4i_9_ c.491+529_*874del r.? p.? Unknown - pathogenic (dominant) g.47602967_47614626del g.47375828_47387488del - - EPCAM_000067 11660 bp deletion C_AluSg4 to C_AluSg4 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Kuiper 2011 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 21309036-F03DId PubMed: Kuiper 2011 - - - Germany - - 0 - - 1 Mamata Sivagnanam
+/. 4i_9_ c.491+529_*874del r.? p.? Unknown - pathogenic (dominant) g.47602967_47614626del g.47375828_47387488del - - EPCAM_000067 11660 bp deletion C_AluSg4 to C_AluSg4 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Kuiper 2011 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 21309036-F07DId PubMed: Kuiper 2011 - - - Germany - - 0 - - 1 Mamata Sivagnanam
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