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)     

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     
+/. 3 c.412C>T r.(?) p.(Arg138*) - pathogenic g.47601174C>T g.47374035C>T - - EPCAM_000036 - Sivagnanam 2010 - - Germline - - - 0 - Mamata Sivagnanam
+/. 3 c.412C>T r.(?) p.(Arg138*) - pathogenic g.47601174C>T g.47374035C>T - - EPCAM_000036 - AlMahamed 2017 - - Germline - - - 0 - Mamata Sivagnanam
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