Gene Variant Detail

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Gene APC
Variant R1399Ffs*9
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC R1399Ffs*9 indicates a shift in the reading frame starting at amino acid 1399 and terminating 9 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). R1399Ffs*9 has not been characterized, however, due to the effects of other truncation mutations downstream of R1399 (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 R1399Ffs*9

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Transcript NM_000038.6
gDNA chr5:g.112839789_112839790delCG
cDNA c.4195_4196delCG
Protein p.R1399Ffs*9
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.5 chr5:g.112839789_112839790delCG c.4195_4196delCG p.R1399Ffs*9 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839789_112839790delCG c.4195_4196delCG p.R1399Ffs*9 RefSeq GRCh38/hg38
NM_000038 chr5:g.112839789_112839790delCG c.4195_4196delCG p.R1399Ffs*9 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839789_112839790delCG c.4195_4196delCG p.R1399Ffs*9 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839789_112839790delCG c.4195_4196delCG p.R1399Ffs*9 RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839789_112839790delCG c.4195_4196delCG p.R1399Ffs*9 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839789_112839790delCG c.4195_4196delCG p.R1399Ffs*9 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839789_112839790delCG c.4195_4196delCG p.R1399Ffs*9 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839789_112839790delCG c.4195_4196delCG p.R1399Ffs*9 RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries