Gene Variant Detail

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Gene KMT2A
Variant R1151*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions KMT2A R1151* results in a premature truncation of the Kmt2a protein at amino acid 1151 of 3969 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R1151* is predicted to lead to a loss of Kmt2a protein function.
Associated Drug Resistance

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Transcript NM_005933.3
gDNA chr11:g.118478083C>T
cDNA c.3451C>T
Protein p.R1151*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001197104.1 chr11:g.118478083C>T c.3451C>T p.R1151* RefSeq GRCh38/hg38
NM_005933 chr11:g.118478083C>T c.3451C>T p.R1151* RefSeq GRCh38/hg38
NM_005933.3 chr11:g.118478083C>T c.3451C>T p.R1151* RefSeq GRCh38/hg38
NM_001197104 chr11:g.118478083C>T c.3451C>T p.R1151* RefSeq GRCh38/hg38

Filtering

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  • 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"

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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 R1151* loss of function - predicted