Gene entry
AP4B1
adaptor related protein complex 4 subunit beta 1
- Chromosome
- 1
- Cytoband
- 1p13.2
- Variants (rsID)
- 4
AP4B1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p13.2). Its official name is “adaptor related protein complex 4 subunit beta 1”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs1217401Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Hereditary spastic paraplegia 47|Hereditary spastic paraplegia
- rs143286419Likely benignsingle nucleotide variantHereditary spastic paraplegia 47|History of neurodevelopmental disorder|Hereditary spastic paraplegia
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.