BARD1 L447C
Gene Variant Detail

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Gene BARD1
Variant L447C
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions BARD1 L447C lies within ANK repeat 1 of the Bard1 protein (UniProt.org). L447C demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 L447C

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Transcript NM_000465.4
gDNA chr2:g.214769287_214769288delCTinsTG
cDNA c.1339_1340delCTinsTG
Protein p.L447C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047445350.1 chr2:g.214769287_214769288delCTinsTG c.1339_1340delCTinsTG p.L447C RefSeq GRCh38/hg38
NM_000465 chr2:g.214769287_214769288delAGinsCA c.1339_1340delCTinsTG p.L447C RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214769287_214769288delCTinsTG c.1339_1340delCTinsTG p.L447C RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214769287_214769288delCTinsTG c.1339_1340delCTinsTG p.L447C 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 Protein Effect Treatment Approaches
BARD1 L447C no effect - predicted