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.

4 entries on 1 page. Showing entries 1 - 4.
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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.*118T>C r.(=) p.(=) - benign g.47613870T>C g.47386731T>C EPCAM(NM_002354.2):c.*118T>C - EPCAM_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_NKI
-/. - c.*118T>C r.(=) p.(=) - benign g.47613870T>C g.47386731T>C EPCAM(NM_002354.2):c.*118T>C - EPCAM_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. 9 c.*118T>C r.(?) p.(=) - likely benign g.47613870T>C g.47386731T>C - - EPCAM_000022 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
+/. 9 c.*118T>C r.spl? p.(=) - pathogenic g.47613870T>C g.47386731T>C 945+118T>C - EPCAM_000022 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
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