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Gene | APC |
Variant | T1459fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC T1459fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1459 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1459fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1459 (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 T1459fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112839968_112839969) |
cDNA | c.(4375_4374) |
Protein | p.T1459fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510 | chr5:g.(112839968_112839969) | c.(4375_4374) | p.T1459fs | RefSeq | GRCh38/hg38 |
NM_001354899.1 | chr5:g.(112840052_112840053) | c.(4375_4374) | p.T1459fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112839968_112839969) | c.(4375_4374) | p.T1459fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112839968_112839969) | c.(4375_4374) | p.T1459fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112839968_112839969) | c.(4375_4374) | p.T1459fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112839968_112839969) | c.(4375_4374) | p.T1459fs | RefSeq | GRCh38/hg38 |
NM_001354899.2 | chr5:g.(112840052_112840053) | c.(4375_4374) | p.T1459fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112839968_112839969) | c.(4375_4374) | p.T1459fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112839968_112839969) | c.(4375_4374) | p.T1459fs | RefSeq | GRCh38/hg38 |
NM_001354904.2 | chr5:g.(112840346_112840347) | c.(4375_4374) | p.T1459fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112839968_112839969) | c.(4375_4374) | p.T1459fs | RefSeq | GRCh38/hg38 |
NM_001354904.1 | chr5:g.(112840346_112840347) | c.(4375_4374) | p.T1459fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112839968_112839969) | c.(4375_4374) | p.T1459fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC T1459fs | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |
APC E941* APC T1459fs |