APOB
Metabolic System · Cholesterol & Lipoprotein Metabolism
Is an APOB variant the same thing as an ApoB blood-test result?
APOB encodes structural proteins used in particles that carry cholesterol and other fats. A blood test measures circulating ApoB, while a genetic test asks whether its instructions contain particular variants.
- Common Gene Name
- apolipoprotein B
- NCBI Gene ID
- 338
- Chromosome
- 2
Clinical Evidence Status
Actionability report availableEstablished disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (8 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| familial hypobetalipoproteinemia 1 | ClinGen gene-disease validity | Definitive | Semidominant | View source 2020-02-26 |
| hypercholesterolemia, autosomal dominant, type B | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2018-11-14 |
| Familial hypercholesterolemia | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2020-01 | |
| Familial hypobetalipoproteinemia | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2020-01 | |
| Homozygous Familial Hypercholesterolemia | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2023-05-03 |
| Heterozygous Familial Hypercholesterolemia | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2023-06-28 |
| Heterozygous Familial Hypercholesterolemia | ClinGen clinical actionability | Scored report; not a validity grade | Pediatric | View source 2023-05-03 |
| Homozygous Familial Hypercholesterolemia | ClinGen clinical actionability | Scored report; not a validity grade | Pediatric | View source 2023-05-03 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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