Full data view for gene BARD1

Information The variants shown are described using the NM_000465.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

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Geographic origin     

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Panel size     

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?/? - c.158+1590C>A r.(=) p.(=) Both (homozygous) g.215672546G>T - BARD1_000010 rs6435862 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.158+1590C>A r.(=) p.(=) Both (homozygous) g.215672546G>T - BARD1_000010 rs6435862 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Evrytania  - Greek no - 3 Despoina Kalfakakou
?/? - c.158+1590C>A r.(=) p.(=) Both (homozygous) g.215672546G>T - BARD1_000010 rs6435862 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Rizovouni, Preveza - Greek no - 1 Despoina Kalfakakou
?/? - c.158+1590C>A r.(=) p.(=) Both (homozygous) g.215672546G>T - BARD1_000010 rs6435862 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
?/? - c.158+1590C>A r.(=) p.(=) Both (homozygous) g.215672546G>T - BARD1_000010 rs6435862 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Paros - Greek no - 1 Despoina Kalfakakou
?/? - c.158+1590C>A r.(=) p.(=) Parent #2 g.215672546G>T - BARD1_000010 rs6435862 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus Thessaloniki Greek no - 1 Despoina Kalfakakou
?/? - c.158+1590C>A r.(=) p.(=) Both (homozygous) g.215672546G>T - BARD1_000010 rs6435862 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.158+1590C>A r.(=) p.(=) Both (homozygous) g.215672546G>T - BARD1_000010 rs6435862 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Sarandë, Albania - Greek no - 1 Despoina Kalfakakou
?/? - c.158+1590C>A r.(=) p.(=) Both (homozygous) g.215672546G>T - BARD1_000010 rs6435862 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - - no - 1 Despoina Kalfakakou
?/? - c.158+1602A>T r.(=) p.(=) Parent #2 g.215672534T>A - BARD1_000002 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus - Cypriot no - 1 Despoina Kalfakakou
?/? - c.158+1602A>T r.(=) p.(=) Parent #2 g.215672534T>A - BARD1_000002 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Corfu Izmir Greek no - 2 Despoina Kalfakakou
?/? - c.158+1602A>T r.(=) p.(=) Parent #2 g.215672534T>A - BARD1_000002 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Arta - Greek no - 1 Despoina Kalfakakou
?/? - c.158+1609G>T r.(=) p.(=) Parent #2 g.215672527C>A - BARD1_000005 rs16852804 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Zaros, Heraklion Asia Minor Greek no - 1 Despoina Kalfakakou
+/+ - c.824T>A r.(?) p.(Leu275*) Parent #2 g.215645774A>T - BARD1_000008 rs765629130 - Germline ? - - - DNA SEQ-NG 0 BrCa - F - - Greek no - 1 Despoina Kalfakakou
+/+ - c.896_897insG r.(?) p.(Pro300Serfs*2) Parent #2 g.215645701_215645702insC - BARD1_000006 - - Germline ? - - - DNA SEQ-NG 0 BrCa - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1315-1780T>G r.(=) p.(=) Parent #2 g.215635816A>C - BARD1_000004 - - Germline - - - - DNA SEQ-NG-I 1 NDL - F Andros Samos Greek no - 1 Despoina Kalfakakou
?/? - c.1315-1756G>T r.(=) p.(=) Parent #2 g.215635792C>A - BARD1_000003 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Chios - Greek no - 4 Despoina Kalfakakou
?/? - c.1315-1756G>T r.(=) p.(=) Parent #2 g.215635792C>A - BARD1_000003 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F İstanbul Nafplion Greek no - 1 Despoina Kalfakakou
+/+ - c.1690C>T r.(?) p.(Gln564*) Parent #2 g.215610566G>A - BARD1_000009 rs587780021 - Germline ? - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
+/+ - c.1690C>T r.(?) p.(Gln564*) Parent #2 g.215610566G>A - BARD1_000009 rs587780021 - Germline - - - - DNA SEQ 0 BrCa - F Izmir Peloponnese Greek no - 1 Despoina Kalfakakou
+/+ - c.1932_1933del r.(?) p.(Cys645*) Parent #2 g.215595203_215595204del - BARD1_000007 rs587782504 - Germline ? - - - DNA SEQ-NG 0 BrCa - F Alexandria, Imathia Thessaloniki Greek no - 2 Despoina Kalfakakou
+/+ - c.1932_1933del r.(?) p.(Cys645*) Parent #2 g.215595203_215595204del - BARD1_000007 rs587782504 - Germline ? - - - DNA SEQ 0 Healthy/Control - F Alexandria, Imathia Chalkidiki Greek no - 1 Despoina Kalfakakou
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