rs1010638222

This variant is located in the VPS53 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

Pontocerebellar hypoplasia type 2E

About VPS53

Involved in endocytic recycling and retrograde transport, endosome to Golgi. Acts upstream of or within lysosomal transport. Located in several cellular components, including Golgi apparatus; perinuclear region of cytoplasm; and recycling endosome. Part of EARP complex and GARP complex. Implicated in pontocerebellar hypoplasia type 2E. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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