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Gene | CBL |
Variant | N890fs |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | CBL N890fs results in a change in the amino acid sequence of the Cbl protein beginning at aa 890 of 906, likely resulting in premature truncation of the functional protein (UniProt.org). N890fs has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL N890fs |
Transcript | NM_005188.4 |
gDNA | chr11:g.(119299727_119299728) |
cDNA | c.(2668_2667) |
Protein | p.N890fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.4 | chr11:g.(119299727_119299728) | c.(2668_2667) | p.N890fs | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.(119299727_119299728) | c.(2668_2667) | p.N890fs | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.(119299727_119299728) | c.(2668_2667) | p.N890fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL N890fs | unknown |