rs34737051

This variant is located in the IARS1 gene.

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ClinVar annotation

Likely Benign★★★☆

5 submitters2 publications

not provided; IARS1-related disorder; not specified

About IARS1

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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