Gene Variant Detail

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Gene ATM
Variant S719*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM S719* results in a premature truncation of the Atm protein at amino acid 719 of 3056 (UniProt.org). Due to the loss of all known functional domains of the Atm protein (UniProt.org), S719* is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM S719*

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Transcript NM_000051.3
gDNA chr11:g.108256246C>A
cDNA c.2156C>A
Protein p.S719*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_005271562 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_006718843 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_017017791 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_017017792 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_017017790 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_005271561 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_011542840 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_011542843 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_017017789 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108256246C>A c.2156C>A p.S719* RefSeq GRCh38/hg38

Filtering

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  • 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"

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