rs148568494

This variant is located in the FARS2 gene.

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ClinVar annotation

Conflicting Classifications
2 submitters2 publications

Combined oxidative phosphorylation defect type 14; not provided

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About FARS2

This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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