Full data view for gene BARD1

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Panel size     

Owner     
-/-? 1 c.70C>T p.(Pro24Ser) Hetero no r.(?) Unknown g.214809500G>A - BARD1_000004 DNA SEQ-NG 20-apr-2017 Invitae-Genia Invitae Breast Cancer Panel - - Syrian-Sephardic-Polish-Ashkenazi - 1 Lina Nuñez-Private Practice
-/-? 1 c.70C>T p.(Pro24Ser) Hetero no r.(?) Unknown g.214809500G>A - BARD1_000004 DNA SEQ-NG 21-mar-2019 CEMIC - Multigenetic panel - Lithuanian - 1 Dolores Mansilla-Instituto Roffo
?/? 1 c.119C>T p.(Ala40Val) Hetero no r.(?) Unknown g.214809451G>A - BARD1_000005 DNA CNV, SEQ-NG 10-aug-2017 Color-Genesia (Progenitest) Hereditary Cancer Risk Test (30 genes) Multigenetic panel - Spanish - 1 Vanesa Lotersztein-Consultorio AGO Progenitest
-/-? 4 c.1053G>C p.(=) Hetero no r.(=) Unknown g.214780821C>G Reclassified June 2019 BARD1_000001 DNA SEQ-NG 20-apr-2017 Invitae-Genia Invitae Breast Cancer Panel - - Syrian-Sephardic-Polish-Ashkenazi - 1 Lina Nuñez-Private Practice
-/-? 4 c.1134G>C p.(Arg378Ser) Hetero no r.(?) Unknown g.214780740C>G Reclassified June 2019 BARD1_000002 DNA SEQ-NG 20-apr-2017 Invitae-Genia Invitae Breast Cancer Panel - - Syrian-Sephardic-Polish-Ashkenazi - 1 Lina Nuñez-Private Practice
-/-? 4 c.1134G>C p.(Arg378Ser) Homo no r.(?) Unknown g.214780740C>G - BARD1_000002 DNA SEQ-NG 21-mar-2019 CEMIC - Multigenetic panel - Lithuanian - 1 Dolores Mansilla-Instituto Roffo
-/- 4i c.1315-19G>A p.(=) Hetero no r.(=) Unknown g.214769331C>T - BARD1_000008 DNA SEQ-NG 21-mar-2019 CEMIC - Multigenetic panel - Lithuanian - 1 Dolores Mansilla-Instituto Roffo
+/+ 5 c.1339C>G p.(Leu447Val) Hetero N/A r.(?) Unknown g.214769288G>C - BARD1_000006 DNA SEQ-NG 25-jul-2017 Color-Genda Hereditary Cancer Risk Test (30 genes) - - Polish-Argentinian - 1 Lina Nuñez-Private Practice
-/-? 6 c.1518T>C p.(=) Homo no r.(=) Unknown g.214767532A>G - BARD1_000009 DNA SEQ-NG 21-mar-2019 CEMIC - Multigenetic panel - Lithuanian - 1 Dolores Mansilla-Instituto Roffo
-/- 6 c.1518_1519invTG p.(Val507Met) Homo no r.(?) Unknown g.214767531_214767532invCA - BARD1_000003 DNA SEQ-NG 20-apr-2017 Invitae-Genia Invitae Breast Cancer Panel - - Syrian-Sephardic-Polish-Ashkenazi - 1 Lina Nuñez-Private Practice
-/-? 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
?/? 7 c.1585C>T p.(Arg529Trp) Hetero no r.(?) Unknown g.214752539G>A - BARD1_000007 DNA SEQ-NG 10-jul-2017 Color-Genda Hereditary Cancer Risk Test (30 genes) - - Spanish-Italian - 1 Cecilia Montes-IMGO
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