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Gene | ATRX |
Variant | F1570C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX F1570C does not lie within any known functional domains of the Atrx protein (UniProt.org). F1570C has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX F1570C |
Transcript | NM_000489.6 |
gDNA | chrX:g.77634694A>C |
cDNA | c.4709T>G |
Protein | p.F1570C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017029605.1 | chrX:g.77633609A>C | c.4709T>G | p.F1570C | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77634694A>C | c.4709T>G | p.F1570C | RefSeq | GRCh38/hg38 |
XM_005262157.6 | chrX:g.77633609A>C | c.4709T>G | p.F1570C | RefSeq | GRCh38/hg38 |
XM_005262157.5 | chrX:g.77633609A>C | c.4709T>G | p.F1570C | RefSeq | GRCh38/hg38 |
XM_005262157 | chrX:g.77633609A>C | c.4709T>G | p.F1570C | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77634694A>C | c.4709T>G | p.F1570C | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77634694A>C | c.4709T>G | p.F1570C | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77634694A>C | c.4709T>G | p.F1570C | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77634694A>C | c.4709T>G | p.F1570C | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77634694A>C | c.4709T>G | p.F1570C | RefSeq | GRCh38/hg38 |
XM_017029605 | chrX:g.77633609A>C | c.4709T>G | p.F1570C | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77634694A>C | c.4709T>G | p.F1570C | 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... |