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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
-/. - c.492-5T>C r.spl? p.? - benign g.47604148T>C g.47377009T>C EPCAM(NM_002354.2):c.492-5T>C - EPCAM_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. 4i c.492-5T>C r.spl? p.? - pathogenic g.47604148T>C g.47377009T>C - - EPCAM_000015 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
-?/. - c.492-5T>C r.spl? p.? - likely benign g.47604148T>C - EPCAM(NM_002354.2):c.492-5T>C - EPCAM_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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