Full data view for gene BRCA2

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

46 entries on 1 page. Showing entries 1 - 46.
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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.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Grevena Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Skliva, Elis - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kavasida, Elis Nafpaktos Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 CUP - F Kymi, Evia Limni, Evia Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Evia Limni, Evia Greek no - 2 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli Laurium Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kithnos &Andros Andros Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Albania - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Vyziki, Arcadia Kollines, Arcadia Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Tinos - Greek no - 7 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Constantinople - Greek no - 4 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mani Neochori, Nafpaktos Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA, TRC - F Stavros, Lesvos - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 - - F Kastoria Egypt Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 - - F Asia Minor Corinth Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 FANCA - F Al Bara, Syria - Syrian no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 CAL, HypPT, NDL, Pheo - M Nisyros Constantinople Greek no - 2 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chloi, Magnesia Velestino Greek no - 4 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pella - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Laconia - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Athens Amaliada Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lefkas - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kalos, Heraklion Krousonas, Heraklion Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kalymnos - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Elassona Kastri, Larisa Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 2 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Fournoi, Icaria Cyprus Chios Greek no - 2 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
-/- - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Skopelos Athens Greek no - 2 Despoina Kalfakakou
./. - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - - - - - - DNA SEQ-NG-I 1 BrCa, GIST - F Arta & Trikala & Distrato, Ioannina Istanbul - - - 1 Stevi Xera
./. - c.9976A>T r.(?) p.(Lys3326*) Parent #2 g.32972626A>T - BRCA2_000018 rs11571833 - - - - - - DNA SEQ-NG-I 1 BrCa - F Albania - - - - 1 Stevi Xera
Legend