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Gene | ATRX |
Variant | L1879V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX L1879V does not lie within any known functional domains of the Atrx protein (UniProt.org). L1879V has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX L1879V |
Transcript | NM_000489.6 |
gDNA | chrX:g.77600496A>C |
cDNA | c.5635T>G |
Protein | p.L1879V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.6 | chrX:g.77600496A>C | c.5635T>G | p.L1879V | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77600496A>C | c.5635T>G | p.L1879V | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77600496A>C | c.5635T>G | p.L1879V | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77600496A>C | c.5635T>G | p.L1879V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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