rs35077384

This is a variant in the ZFYVE27 gene that changes a glycine to an valine.

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ClinVar annotation

Pathogenic★★★☆

12 submitters5 publications

Hereditary spastic paraplegia 33; Spastic paraplegia; Spastic tetraparesis; not specified

About ZFYVE27

This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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