Full data view for gene BARD1

Information The variants shown are described using the NM_000465.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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     
-/-? 6 c.1519G>A p.(Val507Met) Hetero no r.(?) - Unknown g.214767531C>T - BARD1_000010 - - DNA SEQ-NG 21-mar-2019 CEMIC - Multigenetic panel - Lithuanian - - - 1 Dolores Mansilla-Instituto Roffo
-?/-? 6 c.1519G>A p.(Val507Met) Not specified no r.(?) - Unknown g.214767531C>T - BARD1_000010 - - 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
-?/-? 6 c.1519G>A p.(Val507Met) Not specified no r.(?) - Unknown g.214767531C>T - BARD1_000010 - - 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
-?/-? 6 c.1519G>A p.(Val507Met) Not specified no r.(?) - Unknown g.214767531C>T - BARD1_000010 - - 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
-?/-? 6 c.1519G>A p.(Val507Met) Not specified no r.(?) - Unknown g.214767531C>T - BARD1_000010 - - 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
-?/-? 6 c.1519G>A p.(Val507Met) Hetero no r.(?) - Unknown g.214767531C>T - BARD1_000010 - - 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
-?/-? 6 c.1519G>A p.(Val507Met) Hetero no r.(?) - Unknown g.214767531C>T - BARD1_000010 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
-?/-? 6 c.1519G>A p.(Val507Met) Hetero no r.(?) RECLASSIFIED JULY 2022 Unknown g.214767531C>T - BARD1_000010 - - 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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