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Gene | APC |
Variant | M1525Lfs*39 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC M1525Lfs*39 indicates a shift in the reading frame starting at amino acid 1525 and terminating 39 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). M1525Lfs*39 has not been characterized, however, due to the effects of other truncation mutations downstream of M1525 (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 M1525Lfs*39 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112840167_112840170delATGC |
cDNA | c.4573_4576delATGC |
Protein | p.M1525Lfs*39 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510 | chr5:g.112840166_112840169delAATG | c.4572_4575delAATG | p.M1525Lfs*39 | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112840167_112840170delATGC | c.4573_4576delATGC | p.M1525Lfs*39 | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112840167_112840170delATGC | c.4573_4576delATGC | p.M1525Lfs*39 | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112840167_112840170delATGC | c.4573_4576delATGC | p.M1525Lfs*39 | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112840167_112840170delATGC | c.4573_4576delATGC | p.M1525Lfs*39 | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112840166_112840169delAATG | c.4572_4575delAATG | p.M1525Lfs*39 | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112840167_112840170delATGC | c.4573_4576delATGC | p.M1525Lfs*39 | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112840167_112840170delATGC | c.4573_4576delATGC | p.M1525Lfs*39 | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112840167_112840170delATGC | c.4573_4576delATGC | p.M1525Lfs*39 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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