Full data view for gene TP53

Information The variants shown are described using the NM_000546.5 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Reference     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

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Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Panel size     

Owner     
-/-? 4 c.108G>A r.(=) p.(=) Hetero MLH1 - Unknown g.7676261C>T - TP53_000007 DNA SEQ-NG, z-score-CNV 2-aug-2017 Héritas Panel Héritas ovario(18 genes) ATM-BRIP-CDH1-CHEK2-DICER1-EPCAM-MLH1-MSH2-MSH6-MUTYH-NBN-PALB2-PMS2-PTEN-RAD51C-RAD51D-STK11-TP53 Multigenetic panel - Spanish-Italian - 1 Gonzalo Tabares-CEMA
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 20-apr-2017 Invitae-Genia Invitae Breast Cancer Panel - - Syrian-Sephardic-Polish-Ashkenazi - 1 Lina Nuñez-Private Practice
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 23-jun-2017 CEMIC - - - Unknown - 1 Florencia Petracchi-CEMIC
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG, z-score-CNV 10-mar-2017 Héritas Panel Héritas (8 genes) Multigenetic panel - Not available - 1 Gonzalo Tabares-CEMA
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 12-jul-2017 CEMIC - - - Unknown - 1 Pablo Kalfayan-CEMIC
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 3-jan-2018 CEMIC Panel CEMIC - - Italian-Spanish - 1 Pablo Kalfayan-Hospital Italiano
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 21-mar-2019 CEMIC - Multigenetic panel - Spanish-Italian-German - 1 Lina Nuñez-Private Practice
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo BRCA1 - Unknown g.7676154G>C - TP53_000001 DNA CNVs, SEQ-NG 14-mar-2019 IACA - Multigenetic panel - Italian-Spanish - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 21-mar-2019 CEMIC - Multigenetic panel - Lithuanian - 1 Dolores Mansilla-Instituto Roffo
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo BRCA2 - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 26-sep-2018 IACA CNV in genes BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53 Multigenetic panel - Italian - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero BRCA2 - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 4-aug-2019 CEMIC - Multigenetic panel - Spanish-Italian - 1 Claudia Martin-Hospital Privado Centro Médico de Córdoba
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 25-mar-2019 CEMIC - Multigenetic panel - Syrian-Basque-Italian - 1 Pablo Kalfayan-Hospital Italiano
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 25-nov-2019 CEMIC - Multigenetic panel - Italian - 1 Pablo Kalfayan-Hospital Italiano
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 27-sep-2019 Domeq&, Lafage - Multigenetic panel - Italian - 1 Lina Nuñez-Private Practice
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 9-dec-2019 IACA - Multigenetic panel - Italian-Spanish - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 15-apr-2019 IACA - Multigenetic panel - Spanish-Italian-French - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - Unknown g.7676154G>C - TP53_000001 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 Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 29-jul-2019 IACA - Multigenetic panel - Argentinian - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 26-sep-2018 IACA CNV analysis of BRCA1, BRCA2, PALB2, RAD51D, RAD51C and TP53 Multigenetic panel - Spanish-Argentinian - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 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 - Argentinian - 1 Silvina Sisterna-Hospital Privado
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - Unknown g.7676154G>C - TP53_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 - Spanish-Italian - 1 Silvina Sisterna-Hospital Privado
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - Unknown g.7676154G>C - TP53_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 - Spanish-Lebanese - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 7-may-2019 IACA - Multigenetic panel - Spanish - 1 Silvina Sisterna-Hospital Privado
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - Unknown g.7676154G>C - TP53_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 Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 18-jun-2019 IACA - Multigenetic panel - Italian-Argentinian - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 2-aug-2018 IACA CNV test of BRCA1, BRCA2, PALB2, RAD51C, RAD51D, TP53. Multigenetic panel - Italian-French-Basque - 1 Silvina Sisterna-Hospital Privado
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified ATM - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 4-oct-2019 IACA - Multigenetic panel - Spanish-Italian-Argentinian - 1 Silvina Sisterna-Hospital Privado
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified ATM - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 27-dec-2019 IACA - Multigenetic panel - Italian - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 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 Privado
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 24-sep-2019 IACA - Multigenetic panel - Italian-Spanish - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 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 - Spanish-Italian - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 24-apr-2019 IACA - Multigenetic panel - Spanish-Italian - 1 Silvina Sisterna-Hospital Privado
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 21-oct-2019 IACA - Multigenetic panel - Spanish - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 7-may-2019 IACA - Multigenetic panel - Spanish-Italian - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 9-sep-2019 CEMIC - Multigenetic panel - Spanish - 1 Dolores Mansilla-Instituto Roffo
./- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 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 - Italian - 1 Silvina Sisterna-Hospital Privado
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 DNA CNV, SEQ-NG 5-jul-2017 Héritas - Multigenetic panel - Argentinian - 1 Laura Vargas Roig-IMBECU
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 4-may-2020 Domeq&, Lafage - Multigenetic panel - Italian - 1 Lina Nuñez-Hospital Alemán
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 25-sep-2019 CEMIC - Multigenetic panel - Argentinian - 1 Erika Stegmayer - Inst. Nuestra Señora de las Mercedes
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 DNA SEQ-NG 10-oct-2019 Domeq&, Lafage - Multigenetic panel - Caucasian - 1 Erika Stegmayer-CIOC
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_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 Privado
./- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_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 Privado
?/- 4i c.376-91G>A r.(=) p.(=) Homo no - Unknown g.7675327C>T - TP53_000002 DNA SEQ-NG 23-jun-2017 CEMIC - - - Unknown - 1 Florencia Petracchi-CEMIC
?/- 4i c.376-91G>A r.(=) p.(=) Homo no - Unknown g.7675327C>T - TP53_000002 DNA SEQ-NG 12-jul-2017 CEMIC - - - Unknown - 1 Pablo Kalfayan-CEMIC
+?/+? 5 c.428T>C r.(?) p.(Val143Ala) Hetero no - Unknown g.7675184A>G - TP53_000014 DNA CNV, SEQ-NG 24-jan-2019 Héritas Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, EPCAM) Multigenetic panel - Austrian - 1 Laura Vargas Roig-IMBECU
?/? 6 c.587G>A r.(?) p.(Arg196Gln) Hetero no - Unknown g.7674944C>T - TP53_000004 DNA CNV, SEQ-NG 24-oct-2017 Color-Genesia (Progenitest) Hereditary Cancer Risk Test (30 genes) Multigenetic panel - Italian-Argentinian - 1 Vanesa Lotersztein-Consultorio AGO Progenitest
-/- 6 c.639A>G r.(=) p.(=) Hetero no - Unknown g.7674892T>C - TP53_000009 DNA SEQ-NG 21-sep-2017 Héritas Panel Héritas (12 genes) - - Spanish - 1 Laura Vargas Roig-IMBECU
-/- 6 c.639A>G r.(=) p.(=) Hetero no - Unknown g.7674892T>C - TP53_000009 DNA CNV, SEQ-NG 2-aug-2018 IACA CNV test of BRCA1, BRCA2, PALB2, RAD51C, RAD51D, TP53. Multigenetic panel - Italian-French-Basque - 1 Silvina Sisterna-Hospital Privado
-/- 6 c.639A>G r.(=) p.(=) Hetero no - Unknown g.7674892T>C - TP53_000009 DNA SEQ 9-jan-2020 CeNaGeM - Specific pathology - Italian-Spanish - 1 Lina Nuñez-Hospital Alemán
-/- 6 c.639A>G r.(=) p.(=) Hetero no - Unknown g.7674892T>C - TP53_000009 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 Privado
-/-? 6 c.666G>A r.(=) p.(=) Hetero no - Unknown g.7674865C>T - TP53_000015 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 Privado
-/- 6i c.672+62A>G r.(=) p.(=) Homo no - Unknown g.7674797T>C - TP53_000003 DNA SEQ-NG 23-jun-2017 CEMIC - - - Unknown - 1 Florencia Petracchi-CEMIC
-/- 6i c.672+62A>G r.(=) p.(=) Homo no - Unknown g.7674797T>C - TP53_000003 DNA SEQ-NG 12-jul-2017 CEMIC - - - Unknown - 1 Pablo Kalfayan-CEMIC
+/+ 7 c.743G>A r.(?) p.(Arg248Gln) Hetero N/A - Unknown g.7674220C>T - TP53_000005 DNA SEQ-NG 9-oct-2017 Blueprint Genetics-Genda Hereditary Pediatric Cancer Panel Plus (52 Genes) - - Spanish-Italian-Argentinian - 1 Claudia Martin-Hospital Privado Centro Médico de Córdoba
?/? 7 c.776A>G r.(?) p.(Asp259Gly) Hetero no - Unknown g.7674187T>C - TP53_000011 DNA SEQ-NG 1-aug-2018 Color-Genda Hereditary Cancer Risk Test (30 genes) Multigenetic panel - French-Basque-German-Turkish - 1 Lina Nuñez-Private Practice
+?/+? 8 c.799C>T r.(?) p.(Arg267Trp) Hetero no - Unknown g.7673821G>A - TP53_000013 DNA CNV, SEQ-NG 21-oct-2019 Color (deriv. Genda) Hereditary Cancer Risk Test (30 genes) Multigenetic panel - Spanish-Italian-Argentinian - 1 Lina Nuñez-Private Practice
+/+? 8 c.912dup r.(?) p.(Lys305*) Hetero N/A - Unknown g.7673708dup Reclassified June 2019 TP53_000008 DNA SEQ-NG 28-nov-2017 Color-Genda Hereditary Cancer Risk Test (30 genes) - - Spanish - 1 Claudia Martin-Hospital Privado Centro Médico de Córdoba
?/-? 9i c.993+352C>T r.(=) p.(=) Hetero no - Unknown g.7673183G>A Reclassified June 2019 TP53_000010 DNA SEQ-NG 12-jul-2017 CEMIC - - - Unknown - 1 Pablo Kalfayan-CEMIC
+?/+? 10 c.1010G>C r.(?) p.(Arg337Pro) Hetero N/A - Unknown g.7670699C>G - TP53_000012 DNA CNVs, SEQ-NG 20-dec-2018 Color-Genda Hereditary Cancer Risk Test (30 genes) Multigenetic panel - Bolivian - 1 Jesica Ramirez-Hospital Central de Mendoza
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