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.267G>C r.(?) p.(Gln89His) - likely benign g.47601029G>C g.47373890G>C EPCAM(NM_002354.2):c.267G>C (p.Q89H) - EPCAM_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. 3 c.267G>C r.(?) p.(Gln89His) - pathogenic g.47601029G>C g.47373890G>C - - EPCAM_000012 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam
-?/. - c.267G>C r.(?) p.(Gln89His) - likely benign g.47601029G>C g.47373890G>C EPCAM(NM_002354.2):c.267G>C (p.Q89H) - EPCAM_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.267G>C r.(?) p.(Gln89His) - VUS g.47601029G>C g.47373890G>C - - EPCAM_000012 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146480420 Germline - 2/2793 individuals - 0 - Mohammed Faruq
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