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| Gene | IDH1 |
| Variant | Y139X |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | IDH1 Y139X indicates any Idh1 missense mutation that results in replacement of the tyrosine (Y) at amino acid 139 by a different amino acid. |
| Associated Drug Resistance | |
| Category Variants Paths |
IDH1 mutant IDH1 Y139X |
| Transcript | NM_005896.4 |
| gDNA | chr2:g.208245422_208245424 |
| cDNA | c.415_417 |
| Protein | p.Y139 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001282386.1 | chr2:g.208245422_208245424 | c.415_417 | p.Y139 | RefSeq | GRCh38/hg38 |
| NM_005896.3 | chr2:g.208245422_208245424 | c.415_417 | p.Y139 | RefSeq | GRCh38/hg38 |
| NM_001282387.1 | chr2:g.208245422_208245424 | c.415_417 | p.Y139 | RefSeq | GRCh38/hg38 |
| NM_001282387.1 | chr2:g.208245422_208245424 | c.415_417 | p.Y139 | RefSeq | GRCh38/hg38 |
| NM_005896.4 | chr2:g.208245422_208245424 | c.415_417 | p.Y139 | RefSeq | GRCh38/hg38 |
| NM_001282386.1 | chr2:g.208245422_208245424 | c.415_417 | p.Y139 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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