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Gene | RUNX1 |
Variant | H58N |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RUNX1 H58N lies within the Runt domain of the Runx1 protein (UniProt.org). H58N results in a loss of binding to Mll but demonstrates transcriptional activity similar to wild-type Runx1 in culture (PMID: 23817177). |
Associated Drug Resistance |
Transcript | NM_001001890.2 |
gDNA | chr21:g.34886941G>T |
cDNA | c.172C>A |
Protein | p.H58N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001122607 | chr21:g.34886941G>T | c.172C>A | p.H58N | RefSeq | GRCh38/hg38 |
NM_001001890.2 | chr21:g.34886941G>T | c.172C>A | p.H58N | RefSeq | GRCh38/hg38 |
NM_001001890 | chr21:g.34886941G>T | c.172C>A | p.H58N | RefSeq | GRCh38/hg38 |
NM_001122607.1 | chr21:g.34886941G>T | c.172C>A | p.H58N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RUNX1 H58N | loss of function - predicted |