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Gene ATM
Variant L15fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM L15fs results in a change in the amino acid sequence of the Atm protein beginning at aa 15 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), L15fs is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM L15fs

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Transcript NM_000051.4
gDNA chr11:g.(108227666_108227667)
cDNA c.(43_42)
Protein p.L15fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047426977.1 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
NM_001351835.2 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
NM_001351836.2 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
XM_047426978.1 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
XM_047426979.1 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
XM_011542842.4 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108227666_108227667) c.(43_42) p.L15fs RefSeq GRCh38/hg38

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Sorting

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