Full data view for gene PALB2

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

11 entries on 1 page. Showing entries 1 - 11.
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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     
-/-? 12 c.3300T>G p.(=) Hetero no r.(=) - Unknown g.23607914A>C - PALB2_000005 - - DNA SEQ-NG 14-sep-2017 IACA CNVs screening for BRCA1, BRCA2, PALB2 - - Italian - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/-? 12 c.3300T>G p.(=) Hetero no r.(=) - Unknown g.23607914A>C - PALB2_000005 - - DNA SEQ-NG, z-score-CNV 15-nov-2017 Héritas Panel Héritas (24 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-NF1-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2-APC-MUTYH-BMPR1A-SMAD4-CDKN2A-CDK4 - - Spanish - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-?/-? 12 c.3300T>G p.(=) Hetero no r.(=) - Unknown g.23607914A>C - PALB2_000005 - - DNA SEQ-NG 29-jun-2018 Héritas Panel Héritas (BRCA1,BRCA2,PTEN,TP53,ATM,CDH1,CHEK2,NBN,NF1,STK11,BRIP1,RAD51C,RAD51D,MLH1,MSH2,MSH6,PMS2,EPCAM,APC,MUTYH,BMPR1A,SMAD4,CDKN2A,CDK4) Multigenetic panel - Spanish - - - 1 Laura Vargas Roig-IMBECU
-/-? 12 c.3300T>G p.(=) Hetero BRCA2 r.(=) - Unknown g.23607914A>C - PALB2_000005 - - DNA SEQ-NG 4-aug-2019 CEMIC - Multigenetic panel Breast cancer Spanish-Italian - - Breast cancer, Prostate cancer 1 Claudia Martin-Hospital de Córdoba
./-? 12 c.3300T>G p.(=) Not specified no r.(=) - Unknown g.23607914A>C - PALB2_000005 - - 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
-?/-? 12 c.3300T>G p.(=) Hetero no r.(=) - Unknown g.23607914A>C - PALB2_000005 - - 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
./-? 12 c.3300T>G p.(=) Not specified ATM r.(=) - Unknown g.23607914A>C - PALB2_000005 - - 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
-?/- 12 c.3300T>G p.(=) Not specified no r.(=) RECLASSIFIED NOVEMBER 2020 Unknown g.23607914A>C - PALB2_000005 - - DNA CNV, SEQ-NG 24-sep-2019 IACA - Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
-/-? 12 c.3300T>G p.(=) Hetero no r.(=) - Unknown g.23607914A>C - PALB2_000005 - - 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
-/-? 13 c.3300T>G p.(=) Hetero no r.(=) - Unknown g.23607914A>C - PALB2_000005 - - DNA SEQ-NG 25-sep-2019 CEMIC - Multigenetic panel - Argentinian - - - 1 Erika Stegmayer-Inst. Nuestra Señora de las Mercedes
./-? 12 c.3300T>G p.(=) Homo no r.(=) - Unknown g.23607914A>C - PALB2_000005 - - 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
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