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Gene | KMT2A |
Variant | G2349S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KMT2A G2349S does not lie within any known functional domains of the Kmt2a protein (UniProt.org). G2349S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A G2349S |
Transcript | NM_005933.4 |
gDNA | chr11:g.118502946G>A |
cDNA | c.7045G>A |
Protein | p.G2349S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005933 | chr11:g.118502946G>A | c.7045G>A | p.G2349S | RefSeq | GRCh38/hg38 |
XM_011542833.2 | chr11:g.118505355_118505357delGGAinsAGC | c.7045_7047delGGAinsAGC | p.G2349S | RefSeq | GRCh38/hg38 |
NM_005933.4 | chr11:g.118502946G>A | c.7045G>A | p.G2349S | RefSeq | GRCh38/hg38 |
XM_011542833 | chr11:g.118505355_118505357delGGAinsAGC | c.7045_7047delGGAinsAGC | p.G2349S | RefSeq | GRCh38/hg38 |
XM_011542833.3 | chr11:g.118505355_118505357delGGAinsAGC | c.7045_7047delGGAinsAGC | p.G2349S | RefSeq | GRCh38/hg38 |
NM_005933.3 | chr11:g.118502946G>A | c.7045G>A | p.G2349S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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