rs766338883

This variant is located in the VARS2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Combined oxidative phosphorylation defect type 20; not provided

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About VARS2

This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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