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Gene | ATM |
Variant | V1570A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM V1570A does not lie within any known functional domains of the Atm protein (UniProt.org). V1570A is associated with retention of Atm expression in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM V1570A |
Transcript | NM_000051.4 |
gDNA | chr11:g.108293410T>C |
cDNA | c.4709T>C |
Protein | p.V1570A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011542840.3 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108293410T>C | c.4709T>C | p.V1570A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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