Full data view for gene RUNX1

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

33 entries on 1 page. Showing entries 1 - 33.
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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.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 3 Despoina Kalfakakou
-/- - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - 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 rs199881885 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Albania - Albanian no - 1 Despoina Kalfakakou
-/- - c.270+15A>G r.(=) p.(=) Parent #2 g.36259125T>C - RUNX1_000006 rs199881885 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
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