Gene
IDH1
isocitrate dehydrogenase (NADP(+)) 1
- HGNC 5382↗(opens in a new tab)
- Ensembl gene ENSG00000138413↗(opens in a new tab)
- NCBI Gene 3417↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q34
- Coordinates
- Chromosome 2: 208,236,229–208,255,071 (GRCh38)
- Exons
- 10 exons across 18.8 kb
- Protein
- 414 amino acids
- MANE Select transcript
- ENST00000345146.7NM_005896.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads IDH1 yet. The test sequences your whole genome, so your data includes it all the same.
How IDH1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.3 kb of the gene's 18.8 kb; 1,245 of those bases code for the protein.
How a genome test reads IDH1
3
positions in IDH1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 18.8 kb of IDH1, introns included, not only the 2.3 kb of exons.
Traits linked to IDH1
The Human Phenotype Ontology lists these as features of the rare conditions IDH1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Big calvaria
- Broad forehead
- Corners of eye widely separated
- Decreased volume of lip
- Downward slanting of the opening between the eyelids
- Facial asymmetry
- Long philtrum
- Receding chin
Show 1 more trait
Abnormality of the cardiovascular system
- Hemangiomatosis
- Strawberry mark
- Visceral angiomatosis
- Cavernous hemangioma of the face
- Collection of dilated blood vessels that forms mass
- Lymphangioma
- Secundum atrial septal defect
- Subarterial ventricular septal defect
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). IDH1 gene: isocitrate dehydrogenase (NADP(+)) 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/idh1
Dante Labs. IDH1 gene: isocitrate dehydrogenase (NADP(+)) 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/idh1
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