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Gene ATM
Variant L1239fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM L1239fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1239 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). L1239fs has not been characterized, however, due to the effects of other truncation mutations downstream of L1239 (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 L1239fs

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Transcript NM_000051.4
gDNA chr11:g.(108282847_108282848)
cDNA c.(3715_3714)
Protein p.L1239fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.4 chr11:g.(108282847_108282848) c.(3715_3714) p.L1239fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108282847_108282848) c.(3715_3714) p.L1239fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108282847_108282848) c.(3715_3714) p.L1239fs RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.(108282847_108282848) c.(3715_3714) p.L1239fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108282847_108282848) c.(3715_3714) p.L1239fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108282847_108282848) c.(3715_3714) p.L1239fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108282847_108282848) c.(3715_3714) p.L1239fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108282847_108282848) c.(3715_3714) p.L1239fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108282847_108282848) c.(3715_3714) p.L1239fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108282847_108282848) c.(3715_3714) p.L1239fs 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