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Gene | KMT2A |
Variant | S1152L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KMT2A S1152L lies within the CXXC-type zinc finger domain of the Kmt2a protein (UniProt.org). S1152L has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Apr 2022). |
Associated Drug Resistance |
Transcript | NM_005933.3 |
gDNA | chr11:g.118478087C>T |
cDNA | c.3455C>T |
Protein | p.S1152L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011542831 | chr11:g.118477988C>T | c.3455C>T | p.S1152L | RefSeq | GRCh38/hg38 |
XM_011542830.2 | chr11:g.118477988C>T | c.3455C>T | p.S1152L | RefSeq | GRCh38/hg38 |
NM_001197104 | chr11:g.118478087C>T | c.3455C>T | p.S1152L | RefSeq | GRCh38/hg38 |
NM_001197104.1 | chr11:g.118478087C>T | c.3455C>T | p.S1152L | RefSeq | GRCh38/hg38 |
XM_011542829 | chr11:g.118477988C>T | c.3455C>T | p.S1152L | RefSeq | GRCh38/hg38 |
XM_011542829.2 | chr11:g.118477988C>T | c.3455C>T | p.S1152L | RefSeq | GRCh38/hg38 |
XM_011542831.2 | chr11:g.118477988C>T | c.3455C>T | p.S1152L | RefSeq | GRCh38/hg38 |
NM_005933 | chr11:g.118478087C>T | c.3455C>T | p.S1152L | RefSeq | GRCh38/hg38 |
XM_011542830 | chr11:g.118477988C>T | c.3455C>T | p.S1152L | RefSeq | GRCh38/hg38 |
NM_005933.3 | chr11:g.118478087C>T | c.3455C>T | p.S1152L | 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 |
---|---|---|
KMT2A S1152L | unknown |