rs543969956

This variant is located in the AFG3L2 gene.

ClinVar annotation

Uncertain Significance★★★
2 submitters

Inborn genetic diseases; not provided

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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]

View all AFG3L2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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