Gene Variant Detail

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Gene ATM
Variant L100W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM L100W does not lie within any known functional domains of the Atm protein (UniProt.org). L100W has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM L100W

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Transcript NM_000051.4
gDNA chr11:g.108229291T>G
cDNA c.299T>G
Protein p.L100W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006718843 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_011542840 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
NM_001351835.2 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
NM_001351836.2 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
NM_001351836.1 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_017017792 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_006718845.2 chr11:g.108289708_108289709delTAinsGG c.299_300delTAinsGG p.L100W RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_017017790 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_011542842.3 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_006718845.3 chr11:g.108289708_108289709delTAinsGG c.299_300delTAinsGG p.L100W RefSeq GRCh38/hg38
NM_000051 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_006718845 chr11:g.108289708_108289709delTAinsGG c.299_300delTAinsGG p.L100W RefSeq GRCh38/hg38
XM_011542843 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_011542842 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
NM_001351835.1 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_005271561 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_047426977.1 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_047426979.1 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_047426978.1 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_005271562 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_011542842.4 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_017017791 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_017017789 chr11:g.108229291T>G c.299T>G p.L100W RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108229291T>G c.299T>G p.L100W 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References