rs780107435
This variant is located in the DARS1 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout DARS1
This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
View all DARS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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