Full data view for gene BRCA2

Information The variants shown are described using the NM_000059.3 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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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     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Eksochori, Messenia - - - - 2 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kyparissia,Messenia Elis - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Antissa, Lesvos Skalochori, Lesvos - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Patras - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Trikala, Corinthia Karia, Corinthia - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus & Galaxidi Athens & Lamia - - - 5 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Ioannina - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa, GIST - F Arta & Trikala & Distrato, Ioannina Istanbul - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Karditsa - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sidirokastro, Serres France - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Euboea - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia Pontus - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus & Crete Pontus & Eastern Thrace - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - M Exochi, Argolida - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Laconia & Istanbul Manolada, Elis - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalabaka - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - M Sitia, Crete - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Valtetsi, Arcadia Poros Trizinias - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Kefalonia - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus-Odessa, Russia & Schimatari, Boeotia Pilos,Messenia & Alexandria, Egypt - - - 5 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno,Crete - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Arta - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina & Preveza Kalamata & Chania, Crete - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corum,Turkey Mikra Asia Greek - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Gjirokaster, Albania - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Euboea - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Messenia - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Stavros, Larissa Sofades, Karditsa - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Zakynthos Gytheio & Mani Peninsula - - - 3 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Santorini & Smyrna - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens & Kavala Rafina & Komotini - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Laurium & Mani Peninsula Mani Peninsula - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kythnos Rethymno - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia Serres - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Germany Pyrgos , Elis - - - 2 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - - - - 2 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Atalanti, Phthiotis Lesbos - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Syros & Thrace - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Istanbul Mikra Asia - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pelopio, Ancient Olympia, Elis - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - Greek - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Paros - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Fostaina, Achaea Athani, Lefkada - - - 4 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sitia, Crete Mani Peninsula & Icaria - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Albania - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Antalya, Turkey & Euboea - - - 4 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Elliniko,Arcadia & Agoriani, Laconia - - - 3 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Romania - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion, Crete - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lefkada,Phthiotis Paleovracha,Phthiotis - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Andros - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Messini - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Trikala Naousa - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Arta Karpenisi - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thebes Alexandroupolis - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Skyros Naxos & Klepa,Nafpaktia - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Euboea - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Keratea - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Erythres, Attica - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thebes - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Aeghion & Mikra Asia Skiathos & Mikra Asia - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Chania , Crete - - - - 1 Stevi Xera
./. - c.6513G>C r.(=) p.(=) Both (homozygous) g.32915005G>C - BRCA2_000320 rs206076 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lesbos Granitsa, Ioannina - - - 2 Stevi Xera
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