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.859-688_*415{0} r.? p.? ACMG pathogenic (dominant) g.47611617_47628424del g.47384478_47401285del g.47611616::47628425 - MSH2_001888 deletion creates possible fusion transcript EPCAM::MSH2 PubMed: Arnold 2020 - - Germline ? - - 0 - Andreas Laner
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