Gene Variant Detail

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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

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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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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