Full data view for gene RUNX1

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

66 entries on 1 page. Showing entries 1 - 66.
Legend  

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.-21T>C r.(=) p.(=) Parent #2 g.36259430A>G - RUNX1_000015 - - - - DNA SEQ-NG-I 1 OVCA - F Agios Vlasios, Boeotia Davleia, Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.-21T>C r.(=) p.(=) Parent #2 g.36259430A>G - RUNX1_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Germany - German no - 1 Despoina Kalfakakou
./. - c.63C>T r.(=) p.(=) Parent #2 g.36259347G>A - RUNX1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Elaionas, Boeotia Avlonas, Attica Region Greek no - 1 Despoina Kalfakakou
./. - c.63C>T r.(=) p.(=) Parent #2 g.36259347G>A - RUNX1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Nafpaktos - Greek no - 1 Despoina Kalfakakou
./. - c.63C>T r.(=) p.(=) Parent #2 g.36259347G>A - RUNX1_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Psari, Messenia Mavronoros, Grevena Greek no - 1 Despoina Kalfakakou
./. - c.63C>T r.(=) p.(=) Parent #2 g.36259347G>A - RUNX1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Evia - Greek no - 1 Despoina Kalfakakou
./. - c.63C>T r.(=) p.(=) Parent #2 g.36259347G>A - RUNX1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Serres Arta Greek no - 1 Despoina Kalfakakou
./. - c.74T>A r.(?) p.(Met25Lys) Parent #2 g.36259336A>T - RUNX1_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Paros Greek no - 1 Despoina Kalfakakou
./. - c.74T>A r.(?) p.(Met25Lys) Parent #2 g.36259336A>T - RUNX1_000002 - - - - DNA SEQ-NG-I 1 Epend, OC - M Mitilini Athens Greek no - 1 Despoina Kalfakakou
./. - c.74T>A r.(?) p.(Met25Lys) Parent #2 g.36259336A>T - RUNX1_000002 - - - - DNA SEQ-NG-I 1 PGL2 - F Agrinia, Kefalinia - Greek no - 1 Despoina Kalfakakou
./. - c.101C>T r.(?) p.(Pro34Leu) Parent #2 g.36259309G>A - RUNX1_000025 - - - - DNA SEQ-NG-I 1 OVCA - F Malta & Italy Patras& Ν. Italy  Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Peloponnese - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 CMM3, CRC - F Rethimno, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 CRC, TonsilCa - M Dafni, Kalavryta - Greek no - 3 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 CRC - F Corfu Rethimno, Crete Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia Elis Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Pedino, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Anogia, Rethimno Chrani, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Lysi, Famagusta, Cyprus - Cypriot no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 ColPol, CRC - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 2 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Achaia - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Kamares, Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Karavas, Cyprus Chios Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 3 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 3 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 ENC, EnPol, OVCA - F Argolida Corinthia Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 RCC, RenLes - M Chios - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 BladCa, PrCa - M Kastoria - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 Pheo - F Albania - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Cyprus Kalamata & Cyprus Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor & Kavala - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Michalitsi, Ioannina Koroni, Messenia Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Austria Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Tithorea, Phthiotis - Greek no - 1 Despoina Kalfakakou
./. - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.270+36_270+45del r.(=) p.(=) Parent #2 g.36259095_36259104del - RUNX1_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Izmir Greek no - 1 Despoina Kalfakakou
./. - c.363C>T r.(=) p.(=) Parent #2 g.36252918G>A - RUNX1_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.363C>T r.(=) p.(=) Parent #2 g.36252918G>A - RUNX1_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Samos Chios Greek no - 1 Despoina Kalfakakou
./. - c.363C>T r.(=) p.(=) Parent #2 g.36252918G>A - RUNX1_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Corfu Megalopolis, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.411C>T r.(=) p.(=) Parent #2 g.36252870G>A - RUNX1_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Crete Greek no - 1 Despoina Kalfakakou
./. - c.411C>T r.(=) p.(=) Parent #2 g.36252870G>A - RUNX1_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Mani Tirothea, Locris Greek no - 1 Despoina Kalfakakou
./. - c.427+18A>G r.(=) p.(=) Parent #2 g.36252836T>C - RUNX1_000012 - - - - DNA SEQ-NG-I 1 CRC - F Ireland Huddersfield, UK Irish no - 1 Despoina Kalfakakou
./. - c.427+43C>T r.(=) p.(=) Parent #2 g.36252811G>A - RUNX1_000013 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Aivali, Asia Minor Atsiki, Lemnos Greek no - 1 Despoina Kalfakakou
./. - c.532+47C>T r.(=) p.(=) Parent #2 g.36231724G>A - RUNX1_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.573C>T r.(=) p.(=) Parent #2 g.36206858G>A - RUNX1_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Kokkala, Laconia Archani, Phthiotis Greek no - 1 Despoina Kalfakakou
./. - c.573C>T r.(=) p.(=) Parent #2 g.36206858G>A - RUNX1_000004 - - - - DNA SEQ-NG-I 1 ColPol, CRC, GaPol - M Pyrgos, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.573C>T r.(=) p.(=) Parent #2 g.36206858G>A - RUNX1_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Alexandria, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.573C>T r.(=) p.(=) Parent #2 g.36206858G>A - RUNX1_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
./. - c.617G>A r.(?) p.(Arg206His) Parent #2 g.36206814C>T - RUNX1_000023 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.625A>G r.(?) p.(Met209Val) Parent #2 g.36206806T>C - RUNX1_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Chania Athens Greek no - 1 Despoina Kalfakakou
./. - c.724+27C>T r.(=) p.(=) Parent #2 g.36206680G>A - RUNX1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Kozani Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.886+15A>G r.(=) p.(=) Parent #2 g.36171583T>C - RUNX1_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Fier, Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.887-16C>T r.(=) p.(=) Parent #2 g.36164923G>A - RUNX1_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Lemnos - Greek no - 1 Despoina Kalfakakou
./. - c.897C>A r.(?) p.(Asp299Glu) Parent #2 g.36164897G>T - RUNX1_000011 - - - - DNA SEQ-NG-I 1 BrCa, Polyposis - F Agios Petros, Kynouria Cairo, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.900G>T r.(=) p.(=) Parent #2 g.36164894C>A - RUNX1_000018 - - - - DNA SEQ-NG-I 1 OVCA - F Paros / Tinos Paros / Tinos Greek no - 1 Despoina Kalfakakou
./. - c.903A>G r.(=) p.(=) Parent #2 g.36164891T>C - RUNX1_000021 - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
./. - c.932C>T r.(?) p.(Ala311Val) Parent #2 g.36164862G>A - RUNX1_000020 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1324T>C r.(?) p.(Ser442Pro) Parent #2 g.36164470A>G - RUNX1_000019 - - - - DNA SEQ-NG-I 1 OVCA - F Zoodochos, Ioannina - Greek no - 1 Despoina Kalfakakou
Legend