Variant: rs1554120331 

    present in Gene: SH3TC2
    present in Chromosome: 5
    Position on Chromosome: 149009002
    Alleles of this Variant: C/A

rs1554120331 in SH3TC2 gene and Charcot-Marie-Tooth disease type 4 PMID 20220177 2010 Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.