rs1557314226

This variant is located in the RAB39B gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

not provided; Intellectual disability, X-linked 72;Early-onset parkinsonism-intellectual disability syndrome

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About RAB39B

This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]

View all RAB39B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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