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Gene | ATM |
Variant | S1905Ifs*25 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM S1905Ifs*25 indicates a shift in the reading frame starting at amino acid 1905 and terminating 25 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S1905Ifs*25 has not been characterized, however, due to the effects of other truncation mutations downstream of S1905 (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 S1905Ifs*25 |
Transcript | NM_000051.4 |
gDNA | chr11:g.108307934dupA |
cDNA | c.5712dupA |
Protein | p.S1905Ifs*25 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |