rs202087344

This variant is located in the HPS3 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

not provided; Inborn genetic diseases

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About HPS3

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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