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| Gene | KMT2A |
| Variant | S1643Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KMT2A S1643Y does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S1643Y has been identified in sequencing studies (PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
KMT2A mutant KMT2A S1643Y |
| Transcript | NM_005933.4 |
| gDNA | chr11:g.118491861C>A |
| cDNA | c.4928C>A |
| Protein | p.S1643Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005933.4 | chr11:g.118491861C>A | c.4928C>A | p.S1643Y | RefSeq | GRCh38/hg38 |
| NM_005933 | chr11:g.118491861C>A | c.4928C>A | p.S1643Y | RefSeq | GRCh38/hg38 |
| XM_047426963.1 | chr11:g.118491765C>A | c.4928C>A | p.S1643Y | RefSeq | GRCh38/hg38 |
| NM_005933.3 | chr11:g.118491861C>A | c.4928C>A | p.S1643Y | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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