Hypercholesterolemia, autosomal dominant, type B: genes and variants
Hypercholesterolemia, autosomal dominant, type B is linked to 1 analyzed protein (APOB). 3 DNA variants are known to cause it; 1,232 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hypercholesterolemia, autosomal dominant, type B
APOB: Apolipoprotein B-100
It provides the structural backbone for triglyceride-rich lipoproteins and LDL, while ApoB-100 also mediates LDL-receptor binding and clearance. Pathogenic variants can cause familial hypobetalipoproteinemia or defective ApoB-related hypercholesterolemia depending on their effect on particle assembly and receptor binding.
3 disease-causing and 1,232 uncertain variants in APOB are linked to Hypercholesterolemia, autosomal dominant, type B.
Known disease-causing variants in Hypercholesterolemia, autosomal dominant, type B
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| APOB K3394T | 3394 | Basic (possible receptor binding region) | Disease-causing (★) |
| APOB K3394N | 3394 | Basic (possible receptor binding region) | Disease-causing (★) |
| APOB R3527L | 3527 | Disease-causing (★) |
Same protein, different disease
- Familial hypobetalipoproteinemia 1 is also caused by APOB variants; they fall mostly in different places as the Hypercholesterolemia, autosomal dominant, type B variants (7 disease-causing).
Diseases related to Hypercholesterolemia, autosomal dominant, type B
- Hypercholesterolemia, familial, 1, also linked to APOB
- Familial hypercholesterolemia, also linked to APOB
- Homozygous familial hypercholesterolemia, also linked to APOB
- Familial hypobetalipoproteinemia 1, also linked to APOB
- Myocardial infarction, also linked to APOB
Frequently asked questions
Which genes are linked to Hypercholesterolemia, autosomal dominant, type B?
In CATVariant, Hypercholesterolemia, autosomal dominant, type B is linked to 1 analyzed protein: APOB (Apolipoprotein B-100).
How many genetic variants are linked to Hypercholesterolemia, autosomal dominant, type B?
1,539 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1,232 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hypercholesterolemia, autosomal dominant, type B look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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