Unique variants in gene RUNX1

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

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 2 - c.-21T>C r.(=) p.(=) g.36259430A>G - RUNX1_000015 - - - - Despoina Kalfakakou
./. 5 - c.63C>T r.(=) p.(=) g.36259347G>A - RUNX1_000003 - - - - Despoina Kalfakakou
./. 3 - c.74T>A r.(?) p.(Met25Lys) g.36259336A>T - RUNX1_000002 - - - - Despoina Kalfakakou
./. 1 - c.101C>T r.(?) p.(Pro34Leu) g.36259309G>A - RUNX1_000025 - - - - Despoina Kalfakakou
./. 32 - c.270+15A>G r.(=) p.(=) g.36259125T>C - RUNX1_000006 - - - - Despoina Kalfakakou
./. 1 - c.270+36_270+45del r.(=) p.(=) g.36259095_36259104del - RUNX1_000016 - - - - Despoina Kalfakakou
./. 3 - c.363C>T r.(=) p.(=) g.36252918G>A - RUNX1_000010 - - - - Despoina Kalfakakou
./. 2 - c.411C>T r.(=) p.(=) g.36252870G>A - RUNX1_000005 - - - - Despoina Kalfakakou
./. 1 - c.427+18A>G r.(=) p.(=) g.36252836T>C - RUNX1_000012 - - - - Despoina Kalfakakou
./. 1 - c.427+43C>T r.(=) p.(=) g.36252811G>A - RUNX1_000013 - - - - Despoina Kalfakakou
./. 1 - c.532+47C>T r.(=) p.(=) g.36231724G>A - RUNX1_000014 - - - - Despoina Kalfakakou
./. 4 - c.573C>T r.(=) p.(=) g.36206858G>A - RUNX1_000004 - - - - Despoina Kalfakakou
./. 1 - c.617G>A r.(?) p.(Arg206His) g.36206814C>T - RUNX1_000023 - - - - Despoina Kalfakakou
./. 1 - c.625A>G r.(?) p.(Met209Val) g.36206806T>C - RUNX1_000024 - - - - Despoina Kalfakakou
./. 1 - c.724+27C>T r.(=) p.(=) g.36206680G>A - RUNX1_000001 - - - - Despoina Kalfakakou
./. 1 - c.886+15A>G r.(=) p.(=) g.36171583T>C - RUNX1_000026 - - - - Despoina Kalfakakou
./. 1 - c.887-16C>T r.(=) p.(=) g.36164923G>A - RUNX1_000007 - - - - Despoina Kalfakakou
./. 1 - c.897C>A r.(?) p.(Asp299Glu) g.36164897G>T - RUNX1_000011 - - - - Despoina Kalfakakou
./. 1 - c.900G>T r.(=) p.(=) g.36164894C>A - RUNX1_000018 - - - - Despoina Kalfakakou
./. 1 - c.903A>G r.(=) p.(=) g.36164891T>C - RUNX1_000021 - - - - Despoina Kalfakakou
./. 1 - c.932C>T r.(?) p.(Ala311Val) g.36164862G>A - RUNX1_000020 - - - - Despoina Kalfakakou
./. 1 - c.1324T>C r.(?) p.(Ser442Pro) g.36164470A>G - RUNX1_000019 - - - - Despoina Kalfakakou
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