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Gene | ATM |
Variant | R1730* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM R1730* results in a premature truncation of the Atm protein at amino acid 1730 of 3056 (UniProt.org). R1730* has not been characterized, however, due to the effects of other truncation mutations downstream of R1730 (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 R1730* |
Transcript | NM_000051.4 |
gDNA | chr11:g.108301658C>T |
cDNA | c.5188C>T |
Protein | p.R1730* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |