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IDH1 R100* - Gene Variant Detail

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Gene IDH1
Variant R100*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions IDH1 R100* results in a premature truncation of the Idh1 protein at amino acid 100 of 414 (UniProt.org). Due to the loss of all known functional domains (PMID: 20962861), R100* is predicted to lead to a loss of Idh1 protein function.
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 inact mut IDH1 R100*

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Transcript NM_005896.4
gDNA chr2:g.208248485G>A
cDNA c.298C>T
Protein p.R100*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282387.1 chr2:g.208248485G>A c.298C>T p.R100* RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248485G>A c.298C>T p.R100* RefSeq GRCh38/hg38
NM_005896 chr2:g.208248485G>A c.298C>T p.R100* RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248485G>A c.298C>T p.R100* RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248485G>A c.298C>T p.R100* RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248485G>A c.298C>T p.R100* RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248485G>A c.298C>T p.R100* RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248485G>A c.298C>T p.R100* RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248485G>A c.298C>T p.R100* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References