Full data view for gene GATA2

Information The variants shown are described using the 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.-42C>G r.(=) p.(=) Parent #2 g.128205916G>C - GATA2_000007 rs886057933 - Germline - - - - 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 - - Germline - - - - 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 rs367785289 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Duka, Argolis - Greek no - 1 Despoina Kalfakakou
?/? - c.85C>T r.(=) p.(=) Parent #2 g.128205790G>A - GATA2_000028 - - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Katerini Katerini Greek no - 1 Despoina Kalfakakou
?/? - c.105A>G r.(=) p.(=) Parent #2 g.128205770T>C - GATA2_000020 - - Germline - - - - 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 rs143590990 - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 rs760230147 - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus - Greek no - 1 Despoina Kalfakakou
?/? - c.785G>A r.(?) p.(Ser262Asn) Parent #2 g.128204656C>T - GATA2_000030 rs1305082777 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
?/? - c.829A>G r.(?) p.(Ser277Gly) Parent #2 g.128204612T>C - GATA2_000010 rs141800945 - Germline - - - - 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 rs141800945 - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 rs762957000 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Gjirokaster, Albania - Greek no - 1 Despoina Kalfakakou
?/? - c.1094A>C r.(?) p.(Asn365Thr) Parent #2 g.128200711T>G - GATA2_000029 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Serres - Greek no - 2 Despoina Kalfakakou
?/? - c.1094A>G r.(?) p.(Asn365Ser) Parent #2 g.128200711T>C - GATA2_000022 - - Germline - - - - 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 rs376003468 - Germline - - - - 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 rs555534597 - Germline - - - - 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 rs112111696 - Germline - - - - DNA SEQ-NG-I 1 NDL - F Megalochori, Lesvos Africa-UK-Sweden Greek no - 1 Despoina Kalfakakou
./. - c.1233G>A r.(=) p.(=) Parent #2 g.128200072C>T - GATA2_000031 rs34172218 - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
./. - c.1233G>A r.(=) p.(=) Parent #2 g.128200072C>T - GATA2_000031 rs34172218 - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
./. - c.1233G>A r.(=) p.(=) Both (homozygous) g.128200072C>T - GATA2_000031 rs34172218 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - - - - 2 Stevi Xera
./. - c.1233G>A r.(=) p.(=) Parent #2 g.128200072C>T - GATA2_000031 rs34172218 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pelopio, Ancient Olympia, Elis - - - - 1 Stevi Xera
./. - c.1233G>A r.(=) p.(=) Parent #2 g.128200072C>T - GATA2_000031 rs34172218 - - - - - - DNA SEQ-NG-I 1 BrCa - F Paros - - - - 1 Stevi Xera
?/? - c.1287T>C r.(=) p.(=) Parent #2 g.128200018A>G - GATA2_000015 - - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1370C>T r.(?) p.(Thr457Met) Parent #2 g.128199935G>A - GATA2_000012 rs139415862 - Germline - - - - 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 rs139415862 - Germline - - - - 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 rs139415862 - Germline - - - - 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 rs770949428 - Germline - - - - 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 rs534807053 - Germline - - - - 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 rs777726701 - Germline - - - - 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 rs376805544 - Germline - - - - 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 rs376805544 - Germline - - - - 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 rs376805544 - Germline - - - - 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 rs376805544 - Germline - - - - 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 rs376805544 - Germline - - - - 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 rs376805544 - Germline - - - - 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 rs374495352 - Germline - - - - 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 rs374495352 - Germline - - - - 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 rs374495352 - Germline - - - - DNA SEQ-NG-I 1 Pheo - F Kalamata - Greek no - 1 Despoina Kalfakakou
?/? - c.*32C>T r.(=) p.(=) Parent #2 g.128199830G>A - GATA2_000002 rs374495352 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Messini, Messenia Manesi, Messenia - - - 1 Despoina Kalfakakou
Legend