Variant Information
| Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
|---|---|---|---|---|---|
| RUNX1 | chr21:36171597 | chr21:34799300 | c.967+1->TCAA | exon8 | Pathogenic |
| 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 |
Germline variants resulting from ASH’s collaboration with ClinGen on Myeloid Malignancies are shown below:
- Germline Variants for RUNX1