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.

1 entry on 1 page. Showing entry 1.
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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     
+/. 7i_9_ c.859-1682_*2116del pathogenic (dominant) r.? p.? g.47610623_47615868del g.47383484_47388730del - - EPCAM_000079 5246 bp deletion C_AluSx4 to C_AluSq2 PubMed: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
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