Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene APC
Variant S299Tfs*7
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC S299Tfs*7 indicates a shift in the reading frame starting at amino acid 299 and terminating 7 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). S299Tfs*7 has not been characterized, however, due to the effects of other truncation mutations downstream of S299 (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 S299Tfs*7

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_000038.6
gDNA chr5:g.112815553_112815554dupAC
cDNA c.893_894dupAC
Protein p.S299Tfs*7
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354903.2 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001407459.1 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001407447.1 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001354896.2 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001407460.1 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001407449.1 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001407458.1 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001127511.3 chr5:g.(112818981_112819004) c.(895_918) p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001407455.1 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001407457.1 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001407454.1 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38
NM_001407448.1 chr5:g.112815553_112815554dupAC c.893_894dupAC p.S299Tfs*7 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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