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| Gene | ATRX |
| Variant | C1590Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX C1590Y lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). C1590Y has been identified in sequencing studies (PMID: 40887493), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Dec 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATRX mutant ATRX C1590Y |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77634634C>T |
| cDNA | c.4769G>A |
| Protein | p.C1590Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000489.6 | chrX:g.77634634C>T | c.4769G>A | p.C1590Y | RefSeq | GRCh38/hg38 |
| NM_000489 | chrX:g.77634634C>T | c.4769G>A | p.C1590Y | RefSeq | GRCh38/hg38 |
| XM_006724668.3 | chrX:g.77634634C>T | c.4769G>A | p.C1590Y | RefSeq | GRCh38/hg38 |
| XM_006724668.4 | chrX:g.77634634C>T | c.4769G>A | p.C1590Y | RefSeq | GRCh38/hg38 |
| XM_006724668 | chrX:g.77634634C>T | c.4769G>A | p.C1590Y | RefSeq | GRCh38/hg38 |
| XM_047442191.1 | chrX:g.77634634C>T | c.4769G>A | p.C1590Y | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77634634C>T | c.4769G>A | p.C1590Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ATRX mutant | high grade glioma | not applicable | N/A | Guideline | Diagnostic | ATRX mutations aid in the diagnosis of gliomas (NCCN.org). | detail... |