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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 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001351834.2 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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