Gene Variant Detail

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Gene ATM
Variant P1069fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM P1069fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1069 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), P1069fs is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM P1069fs

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Transcript NM_000051.3
gDNA chr11:g.(108272772_108272773)
cDNA c.(3205_3204)
Protein p.P1069fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.3 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108272772_108272773) c.(3205_3204) p.P1069fs RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References