Gene entry
AP4S1
adaptor related protein complex 4 subunit sigma 1
- Chromosome
- 14
- Cytoband
- 14q12
- Variants (rsID)
- 12
AP4S1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q12). Its official name is “adaptor related protein complex 4 subunit sigma 1”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs74807133Benignsingle nucleotide variantSpastic paraplegia
- rs78648016Benignsingle nucleotide variant
- rs200440467Pathogenicsingle nucleotide variantSpastic paraplegia 52, autosomal recessive|Spastic paraplegia|AP4S1-related disorder|Intellectual disability
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.