Gene

APOB

apolipoprotein B

Cytogenetic location: 2p24.1
Coordinates: Chromosome 2: 21,001,429–21,044,073 (GRCh38)
Exons: 29 exons across 42.6 kb
Protein: 4,563 amino acids
Inheritance: Autosomal recessive
Also known as: ApoB-100
MANE Select transcript: ENST00000233242.5NM_000384.3
Locus type: gene with protein product

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

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Curated reports relevant to this gene

Familial Hypercholesterolemia
- - ClinGen rates the link definitive
  - 5 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
  What knowing changes
  Statins, ezetimibe, PCSK9 inhibitors, bempedoic acid, inclisiran
Hereditary Hypolipoproteinemias
- HypobetalipoproteinemiaAutosomal recessive
  Includes abetalipoproteinemia (MTTP), familial hypobetalipoproteinemia (APOB, ANGPTL3) and chylomicron retention disease (SAR1B); severe forms cause fat malabsorption and vitamin E deficiency leading to nerve and retinal damage, while mild carrier forms can simply lower LDL cholesterol and may increase liver fat.
  - ClinGen rates the link definitive
  - 3 GenCC submitters rate it definitive or strong
  What knowing changes
  Knowing allows a low-fat diet with high-dose vitamin E and other fat-soluble vitamins in the severe forms, which can prevent or limit nerve and eye damage.
Hyperlipidemia
- - ClinGen rates the link definitive
  - 5 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list

Inheritance

Autosomal recessive: It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How APOB is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard
Variants with a page

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 14.1 kb of the gene's 42.6 kb; 13,692 of those bases code for the protein.

How a genome test reads APOB

206

positions in APOB 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 42.6 kb of APOB, introns included, not only the 14.1 kb of exons.

Variants with a page (30)

The APOB variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

Variant	HGVS c.	Exon or intron	Position (GRCh38)	ClinVar classification	Review status
c.78_82+5del		Intron 1	21,043,858	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.226_237+1del		Intron 3	21,042,359	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.537+1G>T		Intron 5	21,037,957	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1830-1G>A		Intron 13	21,028,066	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.2604+1G>A		Intron 17	21,023,524	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
E137X	c.409G>T	Exon 5	21,038,086	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
E3493K	c.10477G>A	Exon 26	21,006,391	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
F705Lfs*30	c.2115del	Exon 15	21,026,916	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
F3039Sfs*5	c.9115_9119del	Exon 26	21,007,748	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
G3617Afs*6	c.10848del	Exon 26	21,006,019	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 30 APOB variants →

Traits linked to APOB

The Human Phenotype Ontology lists these as features of the rare conditions APOB can cause. Each trait's page lists the other genes linked to it.

Abnormality of the cardiovascular system

Show 11 more traits

Laboratory abnormality

Show 3 more traits

Abnormality of the eye

Abnormality of the nervous system

Abnormality of head or neck

Abnormality of the integument

External links

Gene records

Transcript

Protein

Variants

Clinical

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.
GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
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

APA

Dante Labs. (n.d.). APOB gene: apolipoprotein B. Retrieved 16 October 2026, from https://dantelabs.com/genes/apob

Vancouver

Dante Labs. APOB gene: apolipoprotein B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/apob

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