Full data view for gene GATA2

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

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-42C>G r.(=) p.(=) Parent #2 g.128205916G>C - GATA2_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.-36C>T r.(=) p.(=) Parent #2 g.128205910G>A - GATA2_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
./. - c.30G>T r.(?) p.(Trp10Cys) Parent #2 g.128205845C>A - GATA2_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Duka, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.105A>G r.(=) p.(=) Parent #2 g.128205770T>C - GATA2_000020 - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
./. - c.121C>G r.(?) p.(Pro41Ala) Parent #2 g.128205754G>C - GATA2_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Pella Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.229+15C>G r.(=) p.(=) Parent #2 g.128205631G>C - GATA2_000006 - - - - DNA SEQ-NG-I 1 BrCa, Polyposis - F Agios Petros, Kynouria Cairo, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.229+38C>T r.(=) p.(=) Parent #2 g.128205608G>A - GATA2_000018 - - - - DNA SEQ-NG-I 1 PrCa - M Famagusta, Cyprus De─čirmenlik, Cyprus Cypriot no - 1 Despoina Kalfakakou
./. - c.230-12_230-9del r.(=) p.(=) Parent #2 g.128205220_128205223del - GATA2_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Raches, Gortynia Athens Greek no - 1 Despoina Kalfakakou
./. - c.230-10_230-9del r.(=) p.(=) Parent #2 g.128205220_128205221del - GATA2_000019 - - - - DNA SEQ-NG-I 1 OVCA - F Psari, Messenia Mavronoros, Grevena Greek no - 1 Despoina Kalfakakou
./. - c.235C>G r.(?) p.(Leu79Val) Parent #2 g.128205206G>C - GATA2_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Paros Athens Greek no - 1 Despoina Kalfakakou
./. - c.240C>T r.(=) p.(=) Parent #2 g.128205201G>A - GATA2_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Nicaea - Greek no - 2 Despoina Kalfakakou
./. - c.773A>G r.(?) p.(His258Arg) Parent #2 g.128204668T>C - GATA2_000025 - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus - Greek no - 1 Despoina Kalfakakou
./. - c.829A>G r.(?) p.(Ser277Gly) Parent #2 g.128204612T>C - GATA2_000010 - - - - DNA SEQ-NG-I 1 BrCa, CHL, ColPol - F Constantinople Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.829A>G r.(?) p.(Ser277Gly) Parent #2 g.128204612T>C - GATA2_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Patra Galatas, Messolonghi Greek no - 1 Despoina Kalfakakou
./. - c.871+12T>C r.(=) p.(=) Parent #2 g.128204558A>G - GATA2_000021 - - - - DNA SEQ-NG-I 1 OVCA - F Cephalonia Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.872-25C>T r.(=) p.(=) Parent #2 g.128202873G>A - GATA2_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Aiani, Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.960C>T r.(=) p.(=) Parent #2 g.128202760G>A - GATA2_000013 - - - - DNA SEQ-NG-I 1 OVCA - F Gjirokaster, Albania - Greek no - 1 Despoina Kalfakakou
./. - c.1094A>G r.(?) p.(Asn365Ser) Parent #2 g.128200711T>C - GATA2_000022 - - - - DNA SEQ-NG-I 1 OVCA - F Thrace Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.1113C>T r.(=) p.(=) Parent #2 g.128200692G>A - GATA2_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.1143+8C>T r.(=) p.(=) Parent #2 g.128200654G>A - GATA2_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Izmir Greek no - 5 Despoina Kalfakakou
./. - c.1143+13C>T r.(=) p.(=) Parent #2 g.128200649G>A - GATA2_000017 - - - - DNA SEQ-NG-I 1 NDL - F Megalochori, Lesvos Africa-UK-Sweden Greek no - 1 Despoina Kalfakakou
./. - c.1287T>C r.(=) p.(=) Parent #2 g.128200018A>G - GATA2_000015 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1370C>T r.(?) p.(Thr457Met) Parent #2 g.128199935G>A - GATA2_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Anogia, Rethimno Chrani, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.1370C>T r.(?) p.(Thr457Met) Parent #2 g.128199935G>A - GATA2_000012 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Arcadia Athens Greek no - 1 Despoina Kalfakakou
./. - c.1370C>T r.(?) p.(Thr457Met) Parent #2 g.128199935G>A - GATA2_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Lamia Karystos, Euboea Greek no - 1 Despoina Kalfakakou
./. - c.1391G>T r.(?) p.(Ser464Ile) Parent #2 g.128199914C>A - GATA2_000024 - - - - DNA SEQ-NG-I 1 OVCA - F Amfilochia - Greek no - 1 Despoina Kalfakakou
./. - c.1401C>T r.(=) p.(=) Parent #2 g.128199904G>A - GATA2_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Milos Greek no - 2 Despoina Kalfakakou
./. - c.1402G>A r.(?) p.(Gly468Ser) Parent #2 g.128199903C>T - GATA2_000026 - - - - DNA SEQ-NG-I 1 OVCA - F Eleochori, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.1416G>A r.(=) p.(=) Parent #2 g.128199889C>T - GATA2_000005 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Aigio - Greek no - 1 Despoina Kalfakakou
./. - c.1416G>A r.(=) p.(=) Parent #2 g.128199889C>T - GATA2_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Kos - Greek no - 1 Despoina Kalfakakou
./. - c.1416G>A r.(=) p.(=) Parent #2 g.128199889C>T - GATA2_000005 - - - - DNA SEQ-NG-I 1 Healthy/Control - M Alexandroupoli - Greek no - 1 Despoina Kalfakakou
./. - c.1416G>A r.(=) p.(=) Parent #2 g.128199889C>T - GATA2_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.1416G>A r.(=) p.(=) Parent #2 g.128199889C>T - GATA2_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Kythera Corfu Greek no - 1 Despoina Kalfakakou
./. - c.1416G>A r.(=) p.(=) Parent #2 g.128199889C>T - GATA2_000005 - - - - DNA SEQ-NG-I 1 OVCA - F Rumelia Trabzon Greek no - 1 Despoina Kalfakakou
./. - c.*32C>T r.(=) p.(=) Parent #2 g.128199830G>A - GATA2_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Messinia Greek no - 1 Despoina Kalfakakou
./. - c.*32C>T r.(=) p.(=) Parent #2 g.128199830G>A - GATA2_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Vlachorafti, Arcadia Pyrgos, Diro, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.*32C>T r.(=) p.(=) Parent #2 g.128199830G>A - GATA2_000002 - - - - DNA SEQ-NG-I 1 Pheo - F Kalamata - Greek no - 1 Despoina Kalfakakou
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