Full data view for gene CDH1

Information The variants shown are described using the NM_004360.3 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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     
-/- 1i c.48+6C>T p.(=) Hetero no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA SEQ-NG 20-apr-2017 Dasa Genómica - Genia, INVITAE Invitae Breast Cancer Panel Multigenetic panel Breast cancer Syrian-Sephardic-Polish-Ashkenazi - - Breast cancer 1 Lina Nuñez-Private Practice
-/- 1i c.48+6C>T p.(=) Hetero BRCA1 r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA SEQ-NG, z-score-CNV 23-may-2017 Héritas Panel Héritas (12 genes) - - Spanish - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA SEQ-NG, z-score-CNV 12-jan-2017 Héritas Panel Héritas (9 genes) - Breast cancer Italian - - Breast cancer 1 Lina Nuñez-Hospital Alemán
-/- 1i c.48+6C>T p.(=) Homo BRCA1 r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA SEQ-NG, z-score-CNV 21-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-/- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA SEQ-NG, z-score-CNV 19-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-/- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA SEQ-NG, z-score-CNV 25-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-/- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA SEQ-NG 19-jul-2017 Héritas Panel Héritas (12 genes) - -- Spanish - - - 1 Laura Vargas Roig-IMBECU
-/- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA SEQ-NG 3-jan-2018 CEMIC Panel CEMIC - - Italian-Spanish - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA SEQ-NG 31-oct-2017 CEMIC - Multigenetic panel - Colombian - - - 1 Florencia Petracchi-CEMIC
-/- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA SEQ-NG 25-jun-2018 CEMIC - Specific pathology - Spanish - - - 1 Pablo Kalfayan-CEMIC
-/- 1i c.48+6C>T p.(=) Hetero no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA SEQ-NG 27-sep-2019 Domeq&, Lafage - Multigenetic panel Pancreatic cancer Italian - - Breast cancer, Colon cancer, Ovarian cancer, Pancreatic cancer 1 Lina Nuñez-Private Practice
-/- 1i c.48+6C>T p.(=) Hetero no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA CNV, SEQ-NG 9-dec-2019 IACA - Multigenetic panel Breast cancer Italian-Spanish - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 1i c.48+6C>T p.(=) Not available no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA CNV, SEQ-NG 6-dec-2019 IACA Panel (ATM, BRCA1, BRCA2, BARD1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, STK11, TP53) Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA CNV, SEQ-NG 29-jul-2019 IACA - Multigenetic panel Breast cancer Argentinian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 1i c.48+6C>T p.(=) Not available no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - 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
./- 1i c.48+6C>T p.(=) Not available no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - 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 N/A Spanish-Lebanese - - Breast cancer, Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 1i c.48+6C>T p.(=) Not available no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - 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
-/- 1i c.48+6C>T p.(=) Hetero no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA CNV, SEQ-NG 18-jun-2019 IACA - Multigenetic panel - Italian-Argentinian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 1i c.48+6C>T p.(=) Not available ATM r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA CNV, SEQ-NG 4-oct-2019 IACA - Multigenetic panel Breast cancer Spanish-Italian-Argentinian - (antec personales/explica cuadro) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 1i c.48+6C>T p.(=) Not available ATM r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA CNV, SEQ-NG 27-dec-2019 IACA - Multigenetic panel Breast cancer, Schwanoma Italian - (antec ambos/explica cuadro) Breast cancer, Melanoma 1 Silvina Sisterna-Hospital de Comunidad
./- 1i c.48+6C>T p.(=) Not available no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA CNV, SEQ-NG 24-sep-2019 IACA - Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA CNV, SEQ-NG 16-aug-2019 IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL) Multigenetic panel Breast cancer, Kidney cancer Spanish-Italian - - Breast cancer, Kidney cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 1i c.48+6C>T p.(=) Not available no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA CNV, SEQ-NG 21-oct-2019 IACA - Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA CNV, SEQ-NG 26-feb-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 Breast cancer Italian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 1i c.48+6C>T p.(=) Hetero no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA CNV, SEQ-NG 5-jul-2017 Héritas - Multigenetic panel - Argentinian - - - 1 Laura Vargas Roig-IMBECU
-/- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA SEQ-NG 22-nov-2019 Biogenotec Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51D, RAD51D, SMAD4, STK11, TP53, EPCAM) Multigenetic panel - Unknown - - - 1 Laura Vargas Roig-IMBECU
-/- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA SEQ-NG 25-sep-2019 CEMIC - Multigenetic panel - Argentinian - - - 1 Erika Stegmayer-Inst. Nuestra Señora de las Mercedes
-/- 1i c.48+6C>T p.(=) Hetero no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - 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
./- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - 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
./- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - 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
./- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - 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
./- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 1i c.48+6C>T p.(=) Homo BRCA2 r.(=) - Unknown g.68737469C>T - CDH1_000002 - - 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
./- 1i c.48+6C>T p.(=) Homo no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - 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
-/- 1i c.48+6C>T p.(=) Hetero no r.(=) - Unknown g.68737469C>T - CDH1_000002 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
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