Variant: rs80338923 

    present in Gene: SH3TC2
    present in Chromosome: 5
    Position on Chromosome: 149028146
    Alleles of this Variant: C/T

rs80338923 in SH3TC2 gene and CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C PMID 22462672 2012 Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.

PMID 23281072 2013 Charcot-Marie-Tooth disease type 4C in Japan: report of a case.

PMID 14574644 2003 Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.