Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
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_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_005896.3 | 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 |
NM_001282386.1 | 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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|---|---|---|---|---|---|
NCT03914742 | Phase Ib/II | Pamiparib + Temozolomide | BGB-290 and Temozolomide in Treating Patients With Recurrent Gliomas With IDH1/2 Mutations | Completed | USA | 0 |