rs759163020

This variant is located in the HPS1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters2 publications

Hermansky-Pudlak syndrome; not provided; Hermansky-Pudlak syndrome 1

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About HPS1

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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