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     
+/. 5i_9_ c.555+402_*1220del r.? p.? - pathogenic (dominant) g.47604618_47614972del g.47377479_47387834del AC079775.6:g.72468_82822del10355 - EPCAM_000069 10355 bp deletion C_AluSz6 to C_AluSz Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Kovacs 2009 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i_9_ c.555+402_*1220del r.? p.? - pathogenic (dominant) g.47604618_47614972del g.47377479_47387834del AC079775.6:g.72468_82822del10355 - EPCAM_000069 10355 bp deletion C_AluSz6 to C_AluSz Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Kovacs 2009 - - Germline - - - 0 - Mamata Sivagnanam
+/. 5i_9_ c.555+402_*1220del r.? p.? - pathogenic (dominant) g.47604618_47614972del g.47377479_47387834del - - EPCAM_000069 10355 bp deletion C_AluSz6 to C_AluSz Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Rossi 2017 - - Germline - - - 0 - Mamata Sivagnanam
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