rs786205560

This is a variant in the LARS2 gene that changes a asparagine to an histidine.

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ClinVar annotation

Pathogenic★★★☆
6 submitters2 publications

Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome; Perrault syndrome; Perrault syndrome 4 (PRLTS4)

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About LARS2

This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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