rs139469785

This is a variant in the AFG3L2 gene that changes a valine to an methionine.

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ClinVar annotation

Pathogenic★★★☆
10 submitters12 publications

Inborn genetic diseases; Optic atrophy 12; Spastic ataxia 5; Spinocerebellar ataxia type 28 (SCA28)

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About AFG3L2

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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