Full data view for gene EPCAM

Information The variants shown are described using the NM_002354.2 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Nea Maditos, Thessaloniki Apollonia, Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Kato Achaia Thessaly Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Messinia - Greek no - 2 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Poros - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Nafplio - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 Polyposis - M Hydra Mykonos Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 CRC - M Neos Marmaras, Halkidiki Serres Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Aegina Chania Greek no - 2 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Aegina Chania Greek no - 3 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - M Santorini Scheveningen, Netherlands Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio Athens Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Megalo Gardiki, Ioannina Pedini, Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa, UtPol - F Karres, Apokoronos, Chania - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Gjirokaster, Albania - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Panopoulos, Antroni, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Mytilene Sparti Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Tichero, Evros - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa, LPSRCM - M Chania Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Megara - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Phthiotis Kalamata Greek no - 2 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 - - F Amfilochia Argolis Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 NDL - F Megalochori, Lesvos Africa-UK-Sweden Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 - - F Armenia Pontus Armenian-Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 Epend, OC - M Mitilini Athens Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 CMM3 - F Athens - Greek no - 2 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 PrCa - M Samsun, Pontus Burgas, Bulgaria Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 CAL, Schw - F Zakynthos Syros Greek no - 3 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 GC, PNCA2 - M Koropi - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 PNCA2 - F Agiorgitika, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 PNCA2 - M Psari, Messenia Tripoli Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 PNCA2 - M Elliniko, Corinthia Vasini, Tripoli Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa, VagCa - F Doksato, Drama Panormos, Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Gouves, Heraklion Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Katerini - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Ramia, Arta - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Thrace Messenia Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Karpenissi  - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Northern Epirus Karkinagri, Icaria Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Koynina, Aigio Kerinia, Aigio Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.831A>G r.(?) p.(Ile277Met) Parent #2 g.47607081A>G - EPCAM_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
Legend