Variant: rs1057518083 

    present in Gene: DYNC1H1
    present in Chromosome: 14
    Position on Chromosome: 101986552
    Alleles of this Variant: C/T

rs1057518083 in DYNC1H1 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O PMID 26846447 2016 Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.

PMID 28554554 2017 Expanding the phenotypic spectrum associated with mutations of DYNC1H1.