View unique variants in gene BARD1

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

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Owner     
./-, -/- 3 5'UTR c.-48T>C p.(=) Not specified no r.(=) g.214809617A>G - BARD1_000013 Silvina Sisterna-Hospital Privado
./-, -/- 3 5'UTR c.-30G>C p.(=) Not specified no r.(=) g.214809599C>G - BARD1_000014 Silvina Sisterna-Hospital Privado
./-, -/-? 6 1 c.70C>T p.(Pro24Ser) Not specified, Hetero no, ATM r.(?) g.214809500G>A Reclassified July 2020 BARD1_000004 Silvina Sisterna-Hospital Privado, Dolores Mansilla-Instituto Roffo, Lina Nuñez-Private Practice
?/? 1 1 c.119C>T p.(Ala40Val) Hetero no r.(?) g.214809451G>A - BARD1_000005 Vanesa Lotersztein-Consultorio AGO Progenitest
./-?, -?/-? 2 1i c.158+1590C>A p.(=) Not specified no r.(=) g.214807822G>T - BARD1_000012 Silvina Sisterna-Hospital Privado
./-? 1 4 c.609A>C p.(=) Not specified no r.(=) g.214781265T>G - BARD1_000016 Silvina Sisterna-Hospital Privado
./-, -/-? 2 4 c.1053G>C p.(=) Not specified, Hetero no r.(=) g.214780821C>G Reclassified July 2020, Reclassified June 2019 BARD1_000001 Silvina Sisterna-Hospital Privado, Lina Nuñez-Private Practice
?/? 1 4 c.1099T>A p.(Ser367Thr) Hetero no r.(?) g.214780775A>T - BARD1_000018 Silvina Sisterna-Hospital Privado
./-, -/-, -/-? 8 4 c.1134G>C p.(Arg378Ser) Not specified, Hetero, Homo no, ATM r.(?) g.214780740C>G Reclassified June 2019, Reclassified July 2020 BARD1_000002 Silvina Sisterna-Hospital Privado, Dolores Mansilla-Instituto Roffo, Lina Nuñez-Private Practice
./-, -/- 4 4i c.1315-19G>A p.(=) Not specified, Hetero no, ATM r.(=) g.214769331C>T - BARD1_000008 Silvina Sisterna-Hospital Privado, Dolores Mansilla-Instituto Roffo
+/+ 1 5 c.1339C>G p.(Leu447Val) Hetero N/A r.(?) g.214769288G>C - BARD1_000006 Lina Nuñez-Private Practice
./-, -/-? 6 6 c.1518T>C p.(=) Not specified, Hetero, Homo no, ATM r.(=) g.214767532A>G Reclassified July 2020 BARD1_000009 Silvina Sisterna-Hospital Privado, Dolores Mansilla-Instituto Roffo
-/- 1 6 c.1518_1519invTG p.(Val507Met) Homo no r.(?) g.214767531_214767532invCA - BARD1_000003 Lina Nuñez-Private Practice
./-?, -/-? 5 6 c.1519G>A p.(Val507Met) Not specified, Hetero no, ATM r.(?) g.214767531C>T - BARD1_000010 Silvina Sisterna-Hospital Privado, Dolores Mansilla-Instituto Roffo
./- 3 6i c.1568+14C>T p.(=) Not specified no, ATM r.(=) g.214767468G>A - BARD1_000015 Silvina Sisterna-Hospital Privado
?/? 1 7 c.1585C>T p.(Arg529Trp) Hetero no r.(?) g.214752539G>A - BARD1_000007 Cecilia Montes-IMGO
?/-? 1 10 c.1972C>T p.(Arg658Cys) Hetero no r.(?) g.214730440G>A - BARD1_000019 Claudia Martin-Hospital Privado Centro Médico de Córdoba
./-? 1 11 c.2212A>G p.(Ile738Val) Not specified no r.(?) g.214728798T>C - BARD1_000017 Silvina Sisterna-Hospital Privado
?/? 1 11 c.2268G>C p.(Trp756Cys) Hetero no r.(?) g.214728742C>G - BARD1_000011 Claudia Martin-Hospital Privado Centro Médico de Córdoba
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