rs1859032707
This variant is located in the HPS5 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout HPS5
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
View all HPS5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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