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Gene | ATM |
Variant | S1455Vfs*3 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM S1455Vfs*3 indicates a shift in the reading frame starting at amino acid 1455 and terminating 3 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S1455Vfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of S1455 (PMID: 16603769), is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM S1455Vfs*3 |
Transcript | NM_000051.4 |
gDNA | chr11:g.108289728delA |
cDNA | c.4363delA |
Protein | p.S1455Vfs*3 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |