Gene entry
APBB1
amyloid beta precursor protein binding family B member 1
- Chromosome
- 11
- Cytoband
- 11p15.4
- Variants (rsID)
- 17
APBB1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p15.4). Its official name is “amyloid beta precursor protein binding family B member 1”. The reference table lists 17 variants (rsID) for this gene.
Clinically classified variants
1 reference-table entries with clinical significance.
- rs120074117Pathogenicsingle nucleotide variantNiemann-Pick disease, type A|Sphingomyelin/cholesterol lipidosis|Niemann-Pick disease, type B|Niemann-Pick disease, type A|Niemann-Pick disease, type B
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.