rs115124715

This variant is located in the AP3B1 gene.

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ClinVar annotation

Benign★☆☆☆

1 submitter

Hermansky-Pudlak syndrome 2

About AP3B1

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 part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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