Full data view for gene ATM

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

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

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     
-/- 40 c.5948G>A p.(Ser1983Asn) Homo BRCA1 r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA SEQ-NG, z-score-CNV 23-may-2017 Héritas Panel Héritas (12 genes) - - Spanish - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 40 c.5948G>A p.(Ser1983Asn) Homo BRCA1 r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA SEQ-NG, z-score-CNV 21-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA SEQ-NG, z-score-CNV 19-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA SEQ-NG, z-score-CNV 25-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA SEQ-NG 19-jul-2017 Héritas Panel Héritas (12 genes) - -- Spanish - - - 1 Laura Vargas Roig-IMBECU
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA SEQ-NG, z-score-CNV 10-mar-2017 Héritas Panel Héritas (8 genes) Multigenetic panel - Not available - - - 1 Gonzalo Tabares-CEMA
-/- 40 c.5948G>A p.(Ser1983Asn) Homo BRCA1 r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNVs, SEQ-NG 14-mar-2019 IACA - Multigenetic panel Breast cancer, Osteosarcoma Italian-Spanish - (antec ambos/explica cuadro clínico) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 40 c.5948G>A p.(Ser1983Asn) Homo BRCA2 r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 26-sep-2018 IACA CNV in genes BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53 Multigenetic panel Breast cancer Italian - (antec ambos/explica cuadro) Breast cancer, Ovarian cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 9-dec-2019 IACA - Multigenetic panel Breast cancer Italian-Spanish - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 15-apr-2019 IACA - Multigenetic panel Breast cancer Spanish-Italian-French - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 40 c.5948G>A p.(Ser1983Asn) Not specified no r.(?) - Unknown g.108312440G>A - ATM_000004 - - 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
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 29-jul-2019 IACA - Multigenetic panel Breast cancer Argentinian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA SEQ-NG 26-sep-2018 IACA CNV analysis of BRCA1, BRCA2, PALB2, RAD51D, RAD51C and TP53 Multigenetic panel Breast cancer Spanish-Argentinian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - 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
./- 40 c.5948G>A p.(Ser1983Asn) Not specified no r.(?) - Unknown g.108312440G>A - ATM_000004 - - 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
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 7-may-2019 IACA - Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 40 c.5948G>A p.(Ser1983Asn) Not specified no r.(?) - Unknown g.108312440G>A - ATM_000004 - - 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
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 2-aug-2018 IACA CNV test of BRCA1, BRCA2, PALB2, RAD51C, RAD51D, TP53. Multigenetic panel Breast cancer Italian-French-Basque - - Melanoma 1 Silvina Sisterna-Hospital de Comunidad
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 18-jun-2019 IACA - Multigenetic panel - Italian-Argentinian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 40 c.5948G>A p.(Ser1983Asn) Not specified ATM r.(?) - Unknown g.108312440G>A - ATM_000004 - - 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
./- 40 c.5948G>A p.(Ser1983Asn) Not specified ATM r.(?) - Unknown g.108312440G>A - ATM_000004 - - 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
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 26-sep-2018 IACA CNV test of BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53 Multigenetic panel - Russian-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 40 c.5948G>A p.(Ser1983Asn) Not specified no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 24-sep-2019 IACA - Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - 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
./- 40 c.5948G>A p.(Ser1983Asn) Not specified no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 21-oct-2019 IACA - Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 7-may-2019 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - 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
-/- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 5-jul-2017 Héritas - Multigenetic panel - Argentinian - - - 1 Laura Vargas Roig-IMBECU
./- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - 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
./- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - 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
./- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - 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
./- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 40 c.5948G>A p.(Ser1983Asn) Homo BRCA2 r.(?) - Unknown g.108312440G>A - ATM_000004 - - 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
./- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - 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
./- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) - Unknown g.108312440G>A - ATM_000004 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRIP1, CDH1, CHEK2. EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
Legend   How to query