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Gene | IDH1 |
Variant | D299H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH1 D299H does not lie within any known functional domains of the Idh1 protein (UniProt.org). D299H has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 D299H |
Transcript | NM_005896.4 |
gDNA | chr2:g.208239959C>G |
cDNA | c.895G>C |
Protein | p.D299H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282387.1 | chr2:g.208239959C>G | c.895G>C | p.D299H | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208239959C>G | c.895G>C | p.D299H | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208239959C>G | c.895G>C | p.D299H | RefSeq | GRCh38/hg38 |
NM_001282387 | chr2:g.208239959C>G | c.895G>C | p.D299H | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208239959C>G | c.895G>C | p.D299H | RefSeq | GRCh38/hg38 |
NM_005896.4 | chr2:g.208239959C>G | c.895G>C | p.D299H | RefSeq | GRCh38/hg38 |
NM_005896 | chr2:g.208239959C>G | c.895G>C | p.D299H | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208239959C>G | c.895G>C | p.D299H | RefSeq | GRCh38/hg38 |
NM_001282386 | chr2:g.208239959C>G | c.895G>C | p.D299H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
IDH1 D299H | unknown |