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Gene | ATM |
Variant | R3008X |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM R3008X indicates any ATM missense mutation that results in replacement of the arginine (R) at amino acid 3008 by a different amino acid. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM R3008X |
Transcript | NM_000051.4 |
gDNA | chr11:g.108365359_108365361 |
cDNA | c.9022_9024 |
Protein | p.R3008 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |