IDH1 I5fs
Gene Variant Detail

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Gene IDH1
Variant I5fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions IDH1 I5fs results in a change in the amino acid sequence of the Idh1 protein beginning at aa 5 of 414, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I5fs is predicted to lead to a loss of Idh1 protein function.
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 inact mut IDH1 I5fs

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Transcript NM_005896.4
gDNA chr2:g.(208251539_208251540)
cDNA c.(13_12)
Protein p.I5fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282387.1 chr2:g.(208251539_208251540) c.(13_12) p.I5fs RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.(208251539_208251540) c.(13_12) p.I5fs RefSeq GRCh38/hg38
NM_001282387 chr2:g.208251540_208251541insC c.11_12insG p.I5fs*13 RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.(208251539_208251540) c.(13_12) p.I5fs RefSeq GRCh38/hg38
NM_005896 chr2:g.208251540_208251541insC c.11_12insG p.I5fs*13 RefSeq GRCh38/hg38
NM_005896.3 chr2:g.(208251539_208251540) c.(13_12) p.I5fs RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.(208251539_208251540) c.(13_12) p.I5fs RefSeq GRCh38/hg38
NM_001282386 chr2:g.208251540_208251541insC c.11_12insG p.I5fs*13 RefSeq GRCh38/hg38
NM_005896.4 chr2:g.(208251539_208251540) c.(13_12) p.I5fs RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries