Gene entry
ACTB
actin beta
- Chromosome
- 7
- Cytoband
- 7p22.1
- Variants (rsID)
- 4
ACTB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7p22.1). Its official name is “actin beta”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs587779770Likely pathogenicsingle nucleotide variantBaraitser-Winter syndrome 1
- rs281875334Pathogenicsingle nucleotide variantBaraitser-Winter syndrome 1
- rs587779777Pathogenicsingle nucleotide variantBaraitser-Winter syndrome 1|ACTB-related BAFopathy
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.