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Gene | APC |
Variant | L1509Efs*4 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC L1509Efs*4 indicates a shift in the reading frame starting at amino acid 1509 and terminating 4 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L1509Efs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of L1509 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC L1509Efs*4 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112840119_112840120delCT |
cDNA | c.4525_4526delCT |
Protein | p.L1509Efs*4 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.2 | chr5:g.112840119_112840120delCT | c.4525_4526delCT | p.L1509Efs*4 | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112840119_112840120delCT | c.4525_4526delCT | p.L1509Efs*4 | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112840119_112840120delCT | c.4525_4526delCT | p.L1509Efs*4 | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112840119_112840120delCT | c.4525_4526delCT | p.L1509Efs*4 | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112840119_112840120delCT | c.4525_4526delCT | p.L1509Efs*4 | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112840119_112840120delCT | c.4525_4526delCT | p.L1509Efs*4 | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112840119_112840120delCT | c.4525_4526delCT | p.L1509Efs*4 | RefSeq | GRCh38/hg38 |
NM_001354905.2 | chr5:g.112840598_112840599insGACCCAAA | c.4524_4525insGACCCAAA | p.L1509Efs*4 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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