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| Gene | ATM |
| Variant | A1950T |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATM A1950T lies within the FAT domain of the Atm protein (UniProt.org). A1950T has been identified in sequencing studies (PMID: 26960398, PMID: 32268276), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATM mutant ATM A1950T |
| Transcript | NM_000051.4 |
| gDNA | chr11:g.108310245G>A |
| cDNA | c.5848G>A |
| Protein | p.A1950T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011542840.4 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_006718843 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| NM_000051.3 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_017017791.1 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| NM_001351834.2 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| NM_001351834.1 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_017017791 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_005271561 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_047426975.1 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_011542843.3 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_011542843.2 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_006718843.4 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_017017790.3 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_011542840 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_011542845 | chr11:g.108329087G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_005271562.6 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| NM_000051 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| NM_000051.4 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_017017790.2 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_017017789 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_017017790 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_011542843 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_047426976.1 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_017017789.2 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_005271562.5 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_011542840.3 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_006718843.5 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_011542845.2 | chr11:g.108329087G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| XM_005271562 | chr11:g.108310245G>A | c.5848G>A | p.A1950T | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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