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Gene | APC |
Variant | H1490fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC H1490fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1490 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). H1490fs has not been characterized, however, due to the effects of other truncation mutations downstream of H1490 (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 H1490fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112840061_112840062) |
cDNA | c.(4468_4467) |
Protein | p.H1490fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407450.1 | chr5:g.(112840061_112840062) | c.(4468_4467) | p.H1490fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112840061_112840062) | c.(4468_4467) | p.H1490fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112840061_112840062) | c.(4468_4467) | p.H1490fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112840061_112840062) | c.(4468_4467) | p.H1490fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112840061_112840062) | c.(4468_4467) | p.H1490fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112840061_112840062) | c.(4468_4467) | p.H1490fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112840061_112840062) | c.(4468_4467) | p.H1490fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112840061_112840062) | c.(4468_4467) | p.H1490fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112840061_112840062) | c.(4468_4467) | p.H1490fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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