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.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
+/. 7i_9_ c.859-692_*1991del r.? p.? - pathogenic (dominant) g.47611613_47615743del g.47384474_47388604del 859-672_*2170del - EPCAM_000065 4130 bp deletion C_AluSx1 to C_AluSq2; MSH2 gene not expressed (methylated) PubMed: Eguchi 2015 - - Germline - - - 0 allele methylated Mamata Sivagnanam
Legend   How to query