Variant: rs387906639 

    present in Gene: HARS1;DND1
    present in Chromosome: 5
    Position on Chromosome: 140674776
    Alleles of this Variant: T/G

rs387906639 in HARS1;DND1 gene and Movement Disorders PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 22930593 2013 A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.

PMID 26072516 2015 Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

rs387906639 in HARS1;DND1 gene and Muscle hypotonia PMID 26072516 2015 Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

PMID 22930593 2013 A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

rs387906639 in HARS1;DND1 gene and USHER SYNDROME, TYPE IIIB PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.