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.

2 entries on 1 page. Showing entries 1 - 2.
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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.555+901_*4492del pathogenic (dominant) r.? p.? g.47605117_47618244del g.47377978_47391106del - - EPCAM_000070 13128 bp deletion + AluY to +_AluSp PubMed: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i_9_ c.555+901_*4492del pathogenic (dominant) r.? p.? g.47605117_47618244del g.47377978_47391106del - - EPCAM_000070 13128 bp deletion + AluY to +_AluSp PubMed: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
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