Gene entry
CSTB
cystatin B
- Chromosome
- 21
- Cytoband
- 21q22.3
- Variants (rsID)
- 5
CSTB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 21 (region 21q22.3). Its official name is “cystatin B”. The reference table lists 5 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs6383Benignsingle nucleotide variantUnverricht-Lundborg syndrome|Progressive myoclonic epilepsy|Seizure
- rs143153487Conflicting interpretationssingle nucleotide variantUnverricht-Lundborg syndrome|Progressive myoclonic epilepsy
- rs147484110Conflicting interpretationssingle nucleotide variantUnverricht-Lundborg syndrome|Inborn genetic diseases|Progressive myoclonic epilepsy|Chorea|Dyskinesia|Microcephaly|Encephalopathy|Cerebral dysmyelination
- rs776181852Conflicting interpretationssingle nucleotide variantUnverricht-Lundborg syndrome
- rs74315442Pathogenicsingle nucleotide variantUnverricht-Lundborg syndrome|8 conditions|Childhood epilepsy with centrotemporal spikes|Progressive myoclonic epilepsy
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.