Gene entry
SCARB2
scavenger receptor class B member 2
- Chromosome
- 4
- Cytoband
- 4q21.1
- Variants (rsID)
- 20
SCARB2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q21.1). Its official name is “scavenger receptor class B member 2”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs143655258Benignsingle nucleotide variantAction myoclonus-renal failure syndrome|Seizure|Progressive myoclonic epilepsy
- rs143518519Conflicting interpretationssingle nucleotide variantProgressive myoclonic epilepsy
- rs147159813Conflicting interpretationssingle nucleotide variantSeizure|Action myoclonus-renal failure syndrome|Progressive myoclonic epilepsy
- rs200053119Pathogenicsingle nucleotide variantAction myoclonus-renal failure syndrome|Progressive myoclonic epilepsy
- rs148022786Uncertain significancesingle nucleotide variantProgressive myoclonic epilepsy|Action myoclonus-renal failure syndrome
- rs148588727Uncertain significancesingle nucleotide variantSeizure|Progressive myoclonic epilepsy
- rs751827409Uncertain significancesingle nucleotide variantProgressive myoclonic epilepsy|Seizure
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.