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| Gene | ATRX |
| Variant | D1719G |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX D1719G lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). D1719G has been identified in sequencing studies (PMID: 24148618), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATRX mutant ATRX D1719G |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77620511T>C |
| cDNA | c.5156A>G |
| Protein | p.D1719G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006724668.3 | chrX:g.77620511T>C | c.5156A>G | p.D1719G | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77620511T>C | c.5156A>G | p.D1719G | RefSeq | GRCh38/hg38 |
| XM_006724668 | chrX:g.77620511T>C | c.5156A>G | p.D1719G | RefSeq | GRCh38/hg38 |
| XM_047442191.1 | chrX:g.77620511T>C | c.5156A>G | p.D1719G | RefSeq | GRCh38/hg38 |
| XM_006724668.4 | chrX:g.77620511T>C | c.5156A>G | p.D1719G | RefSeq | GRCh38/hg38 |
| XM_017029606.2 | chrX:g.77618867T>C | c.5156A>G | p.D1719G | RefSeq | GRCh38/hg38 |
| XM_017029606 | chrX:g.77618867T>C | c.5156A>G | p.D1719G | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77620511T>C | c.5156A>G | p.D1719G | RefSeq | GRCh38/hg38 |
| NM_000489 | chrX:g.77620511T>C | c.5156A>G | p.D1719G | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ATRX D1719G | unknown |