All variants in the EPCAM gene


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     

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     

Owner     
+/. 4i_9_ c.492-509_*13721del r.? p.? - pathogenic (dominant) g.47603644_47627473del g.47376505_47400335del - - EPCAM_000068 23830 bp deletion C_AluSp to C_AluSx1 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 - Mamata Sivagnanam
+/. 4i_9_ c.492-509_*13721del r.? p.? - pathogenic (dominant) g.47603644_47627473del g.47376505_47400335del AC079775.6:g.71494_95323delins9 - EPCAM_000068 23830 bp deletion C_AluSp to C_AluSx1 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: Van der Klift 2005 - - Germline - - - 0 - Mamata Sivagnanam
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