Full data view for gene EPCAM

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

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Remarks     

Cuadro familiar     

Panel size     

Owner     
-/-? 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA SEQ-NG 30-jun-2017 Genia - - - Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/-? 3 c.344T>C p.(Met115Thr) Hetero MLH1 r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA SEQ-NG 27-nov-2017 Genia - - -- Ashkenazi - - - 1 Pablo Kalfayan-Hospital Italiano
-/-? 3 c.344T>C p.(Met115Thr) Homo no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA SEQ-NG 5-mar-2018 Clinica Universitaria Reina Fabiola - - - Spanish - - - 1 Jose Llugdar-Instituto Oulton
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) RECLASSIFIED JUNE 2019 Unknown g.47373967T>C - EPCAM_000001 - - DNA SEQ-NG 13-dec-2018 Domeq&, Lafage - Specific pathology panel Colon cancer Spanish-Italian - CIA (antec pnales/explica cuadro clínico?) Colon cancer 1 Lina Nuñez-Hospital Alemán
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA SEQ-NG 28-feb-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology -- Syrian - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Homo MLH1 r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA SEQ-NG 30-apr-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology -- Spanish-Italian-French-Amerindian - CII (explica cuadro) - 1 Carlos Vaccaro-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Hetero MLH1 r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA SEQ-NG 6-jun-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology -- Italian - MF (explica cuadro) - 1 Carlos Vaccaro-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA SEQ-NG 1-jul-2019 Genia - Specific pathology -- Spanish-French - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA SEQ-NG 3-abr-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology -- Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA SEQ-NG 13-may-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology - Spanish - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - Unknown g.47373967T>C - EPCAM_000001 rs1126497 - DNA CNV, SEQ-NG 28-mar-2018 IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53) Multigenetic panel Breast cancer Argentinian - - Breast cancer, Colon cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Not specified no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Spanish-Italian - - Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - Unknown g.47373967T>C - EPCAM_000001 rs1126497 - DNA CNV, SEQ-NG 7-may-2019 IACA - Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Not specified no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA CNV, SEQ-NG 26-dec-2019 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAND51C, RAD51D, STK11, TP53) Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - Unknown g.47373967T>C - EPCAM_000001 rs1126497 ENST00000405271.1:c.428T>C p.(Met143Thr) DNA CNV, SEQ-NG 24-apr-2019 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA SEQ-NG 26-feb-2019 Genia (deriv. Hospital Italiano) Specific pathology -- Spanish-Itailian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA SEQ-NG 13-apr-2020 CEMIC Panel (ATM, BRCA1/2, TP53, BARD1, VHEK2, PALB2, PTEN, STK11, CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, POLE, POLD1, NBN) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Homo no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA CNV, SEQ-NG 21-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA CNV, SEQ-NG 4-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanis-Ashkenazi - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Homo no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA CNV, SEQ-NG 15-jul-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Homo no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Hetero BRCA2 r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Brazilian-Italian-German - (antec. ambos/explica cuadro) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 3 c.344T>C p.(Met115Thr) Hetero no r.(?) - Unknown g.47373967T>C - EPCAM_000001 - - DNA CNV, SEQ-NG 28-apr-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Polish-Italian-German-Russian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
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