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.

18 entries on 1 page. Showing entries 1 - 18.
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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     
+/. 7i_9_ c.859-1462_*1999del r.[-358_858::NM_000251.2:r.212_*279, -358_858::NM_000251.2:r.-4237_-4127ins212_*279] p.[Val287GlufsX13, Val287_Ala314delins37insMSH2:Ala72_Thr934] - pathogenic g.47610843_47615751del g.47383704_47388612del - - EPCAM_000001 4909 bp deletion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; fusion transcript EPCAM/MSH2; MSH2 variants in tumor PubMed: Ligtenberg 2009 - - Germline yes - - 0 - Johan den Dunnen
+/. 7i_9_ c.859-1462_*1999del r.[859_*405delinsNM_000251.2:c.212_*272, 859_*405delinsNM_000251.2:c.-4237_-4127ins212_*272] p.[Val287GlufsX13, Val287_Ala314delins37insMSH2:Ala72_Thr934] - pathogenic g.47610843_47615751del g.47383704_47388612del - - EPCAM_000001 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes PubMed: Ligtenberg 2009 - - Germline yes - - 0 - Johan den Dunnen
+/. 7i_9_ c.859-1462_*1999del r.[859_*405delinsNM_000251.2:c.212_*272, 859_*405delinsNM_000251.2:c.-4237_-4127ins212_*272] p.[Val287GlufsX13, Val287_Ala314delins37insMSH2:Ala72_Thr934] - pathogenic g.47610843_47615751del g.47383704_47388612del c.859-1462_*1999del - EPCAM_000001 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; wt allele lost in tumor PubMed: Ligtenberg 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 7i_9_ c.859-1462_*1999del r.[859_*405delinsNM_000251.2:c.212_*272, 859_*405delinsNM_000251.2:c.-4237_-4127ins212_*272] p.[Val287GlufsX13, Val287_Ala314delins37insMSH2:Ala72_Thr934] - pathogenic g.47610843_47615751del g.47383704_47388612del c.859-1462_*1999del - EPCAM_000001 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes PubMed: Ligtenberg 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic g.47610843_47615751del g.47383704_47388612del MSH2:c.373C>T + EPCAM:c.859-1462_*1999del - EPCAM_000001 - Mensenkamp and Ligtenberg - - Germline - - - 0 - INSiGHT group
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic (dominant) g.47610843_47615751del g.47383704_47388613del - - EPCAM_000001 4909 bp deletion C_AluSx to C_AluSq2 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: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic (dominant) g.47610843_47615751del g.47383704_47388613del - - EPCAM_000001 4909 bp deletion C_AluSx to C_AluSq2 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: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic (dominant) g.47610843_47615751del g.47383704_47388613del - - EPCAM_000001 4909 bp deletion C_AluSx to C_AluSq2 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: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic (dominant) g.47610843_47615751del g.47383704_47388613del - - EPCAM_000001 4909 bp deletion C_AluSx to C_AluSq2 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: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic (dominant) g.47610843_47615751del g.47383704_47388613del - - EPCAM_000001 4909 bp deletion C_AluSx to C_AluSq2 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: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic (dominant) g.47610843_47615751del g.47383704_47388613del - - EPCAM_000001 4909 bp deletion C_AluSx to C_AluSq2 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: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic (dominant) g.47610843_47615751del g.47383704_47388613del - - EPCAM_000001 4909 bp deletion C_AluSx to C_AluSq2 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: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic (dominant) g.47610843_47615751del g.47383704_47388613del - - EPCAM_000001 4909 bp deletion C_AluSx to C_AluSq2 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: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic (dominant) g.47610843_47615751del g.47383704_47388613del - - EPCAM_000001 4909 bp deletion C_AluSx to C_AluSq2 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: Kuiper 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic (dominant) g.47610843_47615751del g.47383704_47388613del - - EPCAM_000001 4909 bp deletion C_AluSx to C_AluSq2 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: Lynch 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic (dominant) g.47610843_47615751del g.47383704_47388613del - - EPCAM_000001 4909 bp deletion C_AluSx to C_AluSq2 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: Niessen 2009 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic (dominant) g.47610843_47615751del g.47383704_47388613del - - EPCAM_000001 4909 bp deletion C_AluSx to C_AluSq2 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: Niessen 2009 - - Germline - - - 0 - Mamata Sivagnanam
+/. 7i_9_ c.859-1462_*1999del r.? p.? - pathogenic (dominant) g.47610843_47615751del g.47383704_47388613del - - EPCAM_000001 4909 bp deletion C_AluSx to C_AluSq2 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: Niessen 2009 - - Germline - - - 0 - Mamata Sivagnanam
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