Variant: rs121909088 

    present in Gene: DNM2
    present in Chromosome: 19
    Position on Chromosome: 10819992
    Alleles of this Variant: A/G

rs121909088 in DNM2 gene and CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) PMID 19623537 2009 Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

PMID 15731758 2005 Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.