rs2036088919
This variant is located in the NBEAL2 gene.
▶ClinVar annotation
About NBEAL2
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
View all NBEAL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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