Variant: rs267606621 

    present in Gene: AARS1
    present in Chromosome: 16
    Position on Chromosome: 70268356
    Alleles of this Variant: C/T

rs267606621 in AARS1 gene and Charcot-Marie-Tooth Disease, Axonal, Type 2n PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

PMID 20045102 2010 A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

rs267606621 in AARS1 gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 20045102 2010 A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

PMID 22009580 2012 A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).