rs864309527
This is a variant in the RAB39B gene that changes a glycine to an arginine.
▶ClinVar annotation
Pathogenic★☆☆☆
2 submitters1 publicationEarly-onset parkinsonism-intellectual disability syndrome (WSMN); Parkinson disease, X-linked dominant
View on ClinVar →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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