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Gene | KMT2A |
Variant | P3095Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KMT2A P3095Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P3095Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A P3095Q |
Transcript | NM_005933.4 |
gDNA | chr11:g.118505185C>A |
cDNA | c.9284C>A |
Protein | p.P3095Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005933.3 | chr11:g.118505185C>A | c.9284C>A | p.P3095Q | RefSeq | GRCh38/hg38 |
NM_005933.4 | chr11:g.118505185C>A | c.9284C>A | p.P3095Q | RefSeq | GRCh38/hg38 |
NM_005933 | chr11:g.118505185C>A | c.9284C>A | p.P3095Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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