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Gene | IDH1 |
Variant | G70D |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | IDH1 G70D does not lie within any known functional domains of the Idh1 protein (UniProt.org). G70D results in decreased protein stability in cell culture (PMID: 21996744), and therefore, is predicted to lead to a loss of Idh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 inact mut IDH1 G70D |
Transcript | NM_005896.4 |
gDNA | chr2:g.208248574C>T |
cDNA | c.209G>A |
Protein | p.G70D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282386.1 | chr2:g.208248574C>T | c.209G>A | p.G70D | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208248574C>T | c.209G>A | p.G70D | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248574C>T | c.209G>A | p.G70D | RefSeq | GRCh38/hg38 |
NM_005896.4 | chr2:g.208248574C>T | c.209G>A | p.G70D | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248574C>T | c.209G>A | p.G70D | RefSeq | GRCh38/hg38 |
NM_005896 | chr2:g.208248574C>T | c.209G>A | p.G70D | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248574C>T | c.209G>A | p.G70D | RefSeq | GRCh38/hg38 |
NM_001282387 | chr2:g.208248574C>T | c.209G>A | p.G70D | RefSeq | GRCh38/hg38 |
NM_001282386 | chr2:g.208248574C>T | c.209G>A | p.G70D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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