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.

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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     
+/. 7i_9_ c.859-645_*10911del r.? p.? - pathogenic (dominant) g.47611660_47624663del g.47384521_47397525del AC079775.6:g.79509_92513del13004 - EPCAM_000084 13004 bp deletion C_AluSx1 to C_AluSz 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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