rs151344523
This is a variant in the AFG3L2 gene that changes a arginine to an glutamine.
▶ClinVar annotation
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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