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Gene | ATM |
Variant | T593del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | ATM T593del results in the deletion of an amino acid of the Atm protein at amino acid 593 (UniProt.org). T593del has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM T593del |
Transcript | NM_000051.4 |
gDNA | chr11:g.108252006_108252008delACA |
cDNA | c.1777_1779delACA |
Protein | p.T593del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011542840 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108252006_108252008delACA | c.1777_1779delACA | p.T593del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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