Variant: rs80338933 

    present in Gene: SH3TC2
    present in Chromosome: 5
    Position on Chromosome: 149026872
    Alleles of this Variant: G/A

rs80338933 in SH3TC2 gene and Charcot-Marie-Tooth Disease PMID 18511281 2008 Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

PMID 16924012 2006 Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.

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

PMID 19272779 2009 Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations.

PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

rs80338933 in SH3TC2 gene and Charcot-Marie-Tooth disease type 4 PMID 18511281 2008 Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

rs80338933 in SH3TC2 gene and Movement Disorders PMID 9120441 1997 Epidemiology of peripheral neuropathy.

PMID 21291453 2011 High frequency of SH3TC2 mutations in Czech HMSN I patients.

PMID 20220177 2010 Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

PMID 19744956 2009 Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.