KMT2A R3903H - Gene Variant Detail

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Gene KMT2A
Variant R3903H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions KMT2A R3903H lies within the SET domain of the Kmt2a protein (UniProt.org). R3903H results in a loss of histone methyltransferase activity in in vitro assays (PMID: 28182322), and therefore, is predicted to lead to a loss of Kmt2a protein function.
Associated Drug Resistance
Category Variants Paths

KMT2A mutant KMT2A inact mut KMT2A R3903H

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Transcript NM_005933.4
gDNA chr11:g.118521970G>A
cDNA c.11708G>A
Protein p.R3903H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047426963.1 chr11:g.118521395_118521396delGGinsAT c.11708_11709delGGinsAT p.R3903H RefSeq GRCh38/hg38
NM_005933.3 chr11:g.118521970G>A c.11708G>A p.R3903H RefSeq GRCh38/hg38
NM_005933 chr11:g.118521970G>A c.11708G>A p.R3903H RefSeq GRCh38/hg38
NM_005933.4 chr11:g.118521970G>A c.11708G>A p.R3903H RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

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