Full data view for gene EPCAM


NOTE: alias for geneID is TACSTD1
Information The variants shown are described using the NM_002354.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 5 c.499dup r.(?) p.(Gln167Profs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Al Mayouf 2009 - M yes Saudi Arabia - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - DNA SEQ - - DIAR 2 Al Mayouf 2009 - M yes Saudi Arabia - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - DNA SEQ - - DIAR 3 Al Mayouf 2009 - F yes Saudi Arabia - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - DNA SEQ - - DIAR 4 Al Mayouf 2009 - F yes Saudi Arabia - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 2 II.1 Salomon 2011 - M yes Kuwait - - 0 - - 2 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 2 II.2 Salomon 2011 - F yes Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 3 II.1 Salomon 2011 - F yes Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 5 II.1 Salomon 2011 - M yes Kuwait - - 0 - - 2 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 5 II.3 Salomon 2011 - M yes Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 6 IV.3 Salomon 2011 - F yes Kuwait - - 0 - - 2 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 7 II.1 Salomon 2011 - M yes Qatar - - 0 - - 2 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 7 II.5 Salomon 2011 - F yes Qatar - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Parent #2 - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 13 Salomon 2014 - F - Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Parent #2 - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 14,1 Salomon 2014 - F - Kuwait - - 0 - - 2 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Parent #2 - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 14,2 Salomon 2014 - M - Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 16 Salomon 2014 - F - Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 17,1 Salomon 2014 - M - Kuwait - - 0 - - 2 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 17,2 Salomon 2014 - F - Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 18 Salomon 2014 - F - Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 19,1 Salomon 2014 - M - Kuwait - - 0 - - 2 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 19,2 Salomon 2014 - M - Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 20,1 Salomon 2014 - F - Qatar - - 0 - - 2 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 20,2 Salomon 2014 - M - Qatar - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 21 Salomon 2014 - M - Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - AlMahamed 2017 - - Germline - - - 0 - DNA SEQ - - DIAR 1 AlMahamed 2017 - M yes Saudi Arabia - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Both (homozygous) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - AlMahamed 2017 - - Germline - - - 0 - DNA SEQ - - DIAR 2 AlMahamed 2017 - F yes Saudi Arabia - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Parent #1 - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 4 II.1 Salomon 2011 - F yes Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup r.(?) p.(Gln167Serfs*21) Parent #1 - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 6 IV.5 Salomon 2011 - F no Kuwait - - 0 - - 1 Mamata Sivagnanam
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