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Gene entry

HPS5

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

Chromosome
11
Cytoband
11p15.1
Variants (rsID)
28

HPS5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p15.1). Its official name is “HPS5 biogenesis of lysosomal organelles complex 2 subunit 2”. The reference table lists 28 variants (rsID) for this gene.

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Clinically classified variants

8 reference-table entries with clinical significance.

  • rs1140047Benignsingle nucleotide variantHermansky-Pudlak syndrome 5
  • rs144875223Benignsingle nucleotide variantHermansky-Pudlak syndrome 5
  • rs61884288Benignsingle nucleotide variantHermansky-Pudlak syndrome 5
  • rs7128017Benignsingle nucleotide variantHermansky-Pudlak syndrome 5
  • rs147053126Conflicting interpretationssingle nucleotide variantHermansky-Pudlak syndrome 5
  • rs201439984Conflicting interpretationssingle nucleotide variantHermansky-Pudlak syndrome 5
  • rs149229493Likely benignsingle nucleotide variantHermansky-Pudlak syndrome 5|Thrombocytopenia|Abnormal bleeding
  • rs61755718Likely benignsingle nucleotide variantHermansky-Pudlak syndrome 5

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.