All transcript variants in gene EPCAM


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)     

ClassClinical     

RNA change     

Protein     

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     
+/. 5i_9_ c.556-439_*415del pathogenic (dominant) r.556_*415delinsNM_000251.2:367_*279 p.Tyr186_Ala314delinsNP_000242.1:Ala123_Thr934 g.47605653_47636714del g.47378514_47409575del - - EPCAM_000063 31062 bp deletion C_AluSp to C_AluSc5; fusion transcript and protein detected PubMed: Sekine 2017 - - Germline - - - 0 - Mamata Sivagnanam
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