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Gene | KMT2A |
Variant | S1685F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KMT2A S1685F does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S1685F has not been characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A S1685F |
Transcript | NM_005933.4 |
gDNA | chr11:g.118493115C>T |
cDNA | c.5054C>T |
Protein | p.S1685F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001197104.2 | chr11:g.118493106C>T | c.5054C>T | p.S1685F | RefSeq | GRCh38/hg38 |
NM_005933.4 | chr11:g.118493115C>T | c.5054C>T | p.S1685F | RefSeq | GRCh38/hg38 |
NM_005933.3 | chr11:g.118493115C>T | c.5054C>T | p.S1685F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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