Gene entry
HPS1
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
- Chromosome
- 10
- Cytoband
- 10q24.2
- Variants (rsID)
- 27
HPS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q24.2). Its official name is “HPS1 biogenesis of lysosomal organelles complex 3 subunit 1”. The reference table lists 27 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs112337765Benignsingle nucleotide variantHermansky-Pudlak syndrome 1|Hermansky-Pudlak syndrome
- rs112544050Benignsingle nucleotide variantHermansky-Pudlak syndrome 1
- rs1801286Benignsingle nucleotide variantHermansky-Pudlak syndrome 1|Hermansky-Pudlak syndrome
- rs1801287Benignsingle nucleotide variantHermansky-Pudlak syndrome 1|Hermansky-Pudlak syndrome
- rs58548334Benignsingle nucleotide variantHermansky-Pudlak syndrome 1|Hermansky-Pudlak syndrome
- rs7075480Benignsingle nucleotide variantHermansky-Pudlak syndrome 1
- rs139061260Conflicting interpretationssingle nucleotide variantHermansky-Pudlak syndrome 1
- rs200004304Conflicting interpretationssingle nucleotide variantHermansky-Pudlak syndrome 1|Hermansky-Pudlak syndrome
- rs121908385Likely pathogenicsingle nucleotide variantHermansky-Pudlak syndrome 1|Hermansky-Pudlak syndrome
- rs281865084PathogenicDeletionHermansky-Pudlak syndrome 1|Hermansky-Pudlak syndrome
- rs116698870Uncertain significancesingle nucleotide variantHermansky-Pudlak syndrome
- rs188320187Uncertain significancesingle nucleotide variant
- rs1061134Not classifiedsynonymous_variantSynonymous_L266L
- rs34533614Not classifiedmissense_variantMissense_P270S
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.