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Gene ATM
Variant S1993fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM S1993fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1993 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). S1993fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1993 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM S1993fs

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Transcript NM_000051.4
gDNA chr11:g.(108312468_108312469)
cDNA c.(5977_5976)
Protein p.S1993fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017791.1 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
NM_000051.3 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
NM_000051.3 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108312468_108312469) c.(5977_5976) p.S1993fs 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
ATM S1993fs loss of function - predicted Olaparib
ATM W1058* ATM S1993fs