Gene entry
HPS3
HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
- Chromosome
- 3
- Cytoband
- 3q24
- Variants (rsID)
- 18
HPS3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q24). Its official name is “HPS3 biogenesis of lysosomal organelles complex 2 subunit 1”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs140443498Benignsingle nucleotide variantHermansky-Pudlak syndrome 3|Hermansky-Pudlak syndrome
- rs2681092Benignsingle nucleotide variantHermansky-Pudlak syndrome 3
- rs34388030Benignsingle nucleotide variantHermansky-Pudlak syndrome 3|Hermansky-Pudlak syndrome
- rs78336249Benignsingle nucleotide variantHermansky-Pudlak syndrome 3|Hermansky-Pudlak syndrome
- rs141883346Conflicting interpretationssingle nucleotide variantHermansky-Pudlak syndrome 3|Hermansky-Pudlak syndrome
- rs148168280Likely benignsingle nucleotide variantHermansky-Pudlak syndrome 3|Hermansky-Pudlak syndrome
- rs121908316Pathogenicsingle nucleotide variantHermansky-Pudlak syndrome 3|Hermansky-Pudlak syndrome
- rs201227603Pathogenicsingle nucleotide variantHermansky-Pudlak syndrome 3|Hermansky-Pudlak syndrome
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.