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Gene | KMT2A |
Variant | W838Lfs*9 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | KMT2A W838Lfs*9 indicates a shift in the reading frame starting at amino acid 838 and terminating 9 residues downstream causing a premature truncation of the 3969 amino acid Kmt2a protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W838Lfs*9 is predicted to lead to a loss of Kmt2a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A inact mut KMT2A W838Lfs*9 |
Transcript | NM_005933.4 |
gDNA | chr11:g.118473671dupT |
cDNA | c.2512dupT |
Protein | p.W838Lfs*9 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005933.3 | chr11:g.118473671dupT | c.2512dupT | p.W838Lfs*9 | RefSeq | GRCh38/hg38 |
NM_005933.4 | chr11:g.118473671dupT | c.2512dupT | p.W838Lfs*9 | RefSeq | GRCh38/hg38 |
NM_001197104.1 | chr11:g.118473671dupT | c.2512dupT | p.W838Lfs*9 | RefSeq | GRCh38/hg38 |
NM_001197104.2 | chr11:g.118473671dupT | c.2512dupT | p.W838Lfs*9 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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