View all transcript variants in 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     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Owner     
-/-? 1 c.70C>T p.(Pro24Ser) Hetero no r.(?) g.214809500G>A - BARD1_000004 Lina Nuñez-Private Practice
-/-? 1 c.70C>T p.(Pro24Ser) Hetero no r.(?) g.214809500G>A - BARD1_000004 Dolores Mansilla-Instituto Roffo
?/? 1 c.119C>T p.(Ala40Val) Hetero no r.(?) g.214809451G>A - BARD1_000005 Vanesa Lotersztein-Consultorio AGO Progenitest
-/-? 4 c.1053G>C p.(=) Hetero no r.(=) g.214780821C>G Reclassified June 2019 BARD1_000001 Lina Nuñez-Private Practice
-/-? 4 c.1134G>C p.(Arg378Ser) Hetero no r.(?) g.214780740C>G Reclassified June 2019 BARD1_000002 Lina Nuñez-Private Practice
-/-? 4 c.1134G>C p.(Arg378Ser) Homo no r.(?) g.214780740C>G - BARD1_000002 Dolores Mansilla-Instituto Roffo
-/- 4i c.1315-19G>A p.(=) Hetero no r.(=) g.214769331C>T - BARD1_000008 Dolores Mansilla-Instituto Roffo
+/+ 5 c.1339C>G p.(Leu447Val) Hetero N/A r.(?) g.214769288G>C - BARD1_000006 Lina Nuñez-Private Practice
-/-? 6 c.1518T>C p.(=) Homo no r.(=) g.214767532A>G - BARD1_000009 Dolores Mansilla-Instituto Roffo
-/- 6 c.1518_1519invTG p.(Val507Met) Homo no r.(?) g.214767531_214767532invCA - BARD1_000003 Lina Nuñez-Private Practice
-/-? 6 c.1519G>A p.(Val507Met) Hetero no r.(?) g.214767531C>T - BARD1_000010 Dolores Mansilla-Instituto Roffo
?/? 7 c.1585C>T p.(Arg529Trp) Hetero no r.(?) g.214752539G>A - BARD1_000007 Cecilia Montes-IMGO
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