rs368375664

This variant is located in the NBEAL2 gene.

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ClinVar annotation

Conflicting Classifications
4 submitters1 publication

not provided; NBEAL2-related disorder

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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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