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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 |
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_047426978.1 | 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 |
XM_006718843.5 | chr11:g.(108227666_108227667) | c.(43_42) | p.L15fs | RefSeq | GRCh38/hg38 |
XM_047426977.1 | 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_047426981.1 | 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 |
NM_001351834.2 | 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_047426979.1 | 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_005271562.6 | 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 |
NM_000051.4 | 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 |
NM_001351836.2 | chr11:g.(108227666_108227667) | c.(43_42) | p.L15fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM L15fs | loss of function - predicted | Olaparib |