rs140376049

This variant is located in the VPS53 gene.

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ClinVar annotation

Likely Benign★★★☆

8 submitters2 publications

not provided; Microcephaly; Pontocerebellar hypoplasia type 2E; not specified

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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