Variant: rs148806569

present in Gene: DARS1 present in Chromosome: 2 Position on Chromosome: 135911162 Alleles of this Variant: G/A

rs148806569 in DARS1 gene and HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY PMID 23643384 2013 Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.