rs587777593

This is a variant in the TARS2 gene that changes a proline to an leucine.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters2 publications

Combined oxidative phosphorylation defect type 21

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About TARS2

This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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