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Gene APC
Variant L1488Yfs*19
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC L1488Yfs*19 indicates a shift in the reading frame starting at amino acid 1488 and terminating 19 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L1488Yfs*19 has not been characterized, however, due to the effects of other truncation mutations downstream of L1488 (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 L1488fs APC L1488Yfs*19

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Transcript NM_000038.6
gDNA chr5:g.112840057delT
cDNA c.4463delT
Protein p.L1488Yfs*19
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127511.3 chr5:g.(112840110_112840169) c.(4462_4521) p.L1488Yfs*19 RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112840057delT c.4463delT p.L1488Yfs*19 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112840057delT c.4463delT p.L1488Yfs*19 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112840057delT c.4463delT p.L1488Yfs*19 RefSeq GRCh38/hg38
NM_001407467.1 chr5:g.112840442_112840443insTACCCCCCCCCCA c.4461_4462insTACCCCCCCCCCA p.L1488Yfs*19 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112840057delT c.4463delT p.L1488Yfs*19 RefSeq GRCh38/hg38
NM_001407469.1 chr5:g.112840442_112840443insTACCCCCCCCCCA c.4461_4462insTACCCCCCCCCCA p.L1488Yfs*19 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112840057delT c.4463delT p.L1488Yfs*19 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112840057delT c.4463delT p.L1488Yfs*19 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112840057delT c.4463delT p.L1488Yfs*19 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References