Gene Variant Detail

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Gene ATM
Variant L804fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM L804fs results in a change in the amino acid sequence of the Atm protein beginning at 804 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). L804fs has not been characterized, however, due to the effects of other truncation mutations downstream of L804 (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 L804fs

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Transcript NM_000051.4
gDNA chr11:g.(108259018_108259019)
cDNA c.(2410_2409)
Protein p.L804fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001351834.2 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
NM_000051 chr11:g.108259019delC c.2410delC p.L804fs*4 RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_011542840 chr11:g.108259019delC c.2410delC p.L804fs*4 RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_017017789 chr11:g.108259019delC c.2410delC p.L804fs*4 RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_017017792 chr11:g.108259019delC c.2410delC p.L804fs*4 RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_011542843 chr11:g.108259019delC c.2410delC p.L804fs*4 RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_006718843 chr11:g.108259019delC c.2410delC p.L804fs*4 RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_017017791 chr11:g.108259019delC c.2410delC p.L804fs*4 RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_017017790 chr11:g.108259019delC c.2410delC p.L804fs*4 RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_005271561 chr11:g.108259019delC c.2410delC p.L804fs*4 RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
NM_000051.3 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.(108259018_108259019) c.(2410_2409) p.L804fs RefSeq GRCh38/hg38
XM_005271562 chr11:g.108259019delC c.2410delC p.L804fs*4 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 )
  • 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References