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Gene | APC |
Variant | A1296fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC A1296fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1296 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1296fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1296 (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 A1296fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112839479_112839480) |
cDNA | c.(3886_3885) |
Protein | p.A1296fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510 | chr5:g.(112839479_112839480) | c.(3886_3885) | p.A1296fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112839479_112839480) | c.(3886_3885) | p.A1296fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112839479_112839480) | c.(3886_3885) | p.A1296fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112839479_112839480) | c.(3886_3885) | p.A1296fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112839479_112839480) | c.(3886_3885) | p.A1296fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112839479_112839480) | c.(3886_3885) | p.A1296fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112839479_112839480) | c.(3886_3885) | p.A1296fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112839479_112839480) | c.(3886_3885) | p.A1296fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112839479_112839480) | c.(3886_3885) | p.A1296fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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