Gene Variant Detail

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Gene CDH1
Variant G169Rfs*5
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDH1 G169Rfs*5 indicates a shift in the reading frame starting at amino acid 169 and terminating 5 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), G169Rfs*5 is predicted to lead to a loss of Cdh1 protein function.
Associated Drug Resistance

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Transcript NM_004360
gDNA chr16:g.68808536_68808537insG
cDNA c.500_501insG
Protein p.G169Rfs*5
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004360 chr16:g.68808536_68808537insG c.500_501insG p.G169Rfs*5 RefSeq GRCh38/hg38
NM_001317184 chr16:g.68808536_68808537insG c.500_501insG p.G169Rfs*5 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 Protein Effect Treatment Approaches
CDH1 G169Rfs*5 loss of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References