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Variant Information

Gene Coordinates (GRCh37) Coordinates (GRCh38) Nucleotide Protein Interpretation
RUNX1 chr21:36259172 chr21:34886875 c.319C>T p.R107C Pathogenic
RUNX1 chr21:36252877 chr21:34880580 c.485G>A p.Arg162Lys Pathogenic
RUNX1 chr21:36252866 chr21:34880569 c.496C>T p.R166* Pathogenic
RUNX1 chr21:36252865 chr21:34880568 c.497G>A p.R166Q Pathogenic
RUNX1 chr21:36231783 chr21:34859486 c.601C>T p.R201* Pathogenic
RUNX1 chr21:36231782 chr21:34859485 c.602G>A p.R201Q Pathogenic
RUNX1 chr21:36231774 chr21:34859477 c.610C>T p.R204* Pathogenic
RUNX1 chr21:36171607 chr21:34799310 c.958C>T p.R320* Pathogenic
RUNX1 chr21:36171597 chr21:34799300 c.967+1->TCAA exon8 Pathogenic

Germline variants resulting from ASH’s collaboration with ClinGen on Myeloid Malignancies are shown below:

  • Germline Variants for RUNX1