Gene entry
HPS4
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
- Chromosome
- 22
- Cytoband
- 22q12.1
- Variants (rsID)
- 12
HPS4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q12.1). Its official name is “HPS4 biogenesis of lysosomal organelles complex 3 subunit 2”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs1894704Benignsingle nucleotide variantHermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 4
- rs180729981Conflicting interpretationssingle nucleotide variantHermansky-Pudlak syndrome
- rs77597168Conflicting interpretationssingle nucleotide variantHermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 4
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.