Variant: rs1555937168 

    present in Gene: GJB1
    present in Chromosome: X
    Position on Chromosome: 71224099
    Alleles of this Variant: TG/-

rs1555937168 in GJB1 gene and Movement Disorders PMID 22771394 2012 How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

PMID 12477701 2003 Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

PMID 26385972 2016 A Review of X-linked Charcot-Marie-Tooth Disease.

PMID 23773993 2013 Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

PMID 17353473 2007 CMT1X phenotypes represent loss of GJB1 gene function.

PMID 21692908 2011 Phenotype expression in women with CMT1X.

PMID 21282593 2011 A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood.

PMID 15852376 2005 Severe neuropathy with leaky connexin32 hemichannels.

PMID 28097225 2017 Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic.

PMID 27844031 2016 Clinical and biophysical characterization of 19 GJB1 mutations.

rs1555937168 in GJB1 gene and Muscle hypotonia PMID 23773993 2013 Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

PMID 28097225 2017 Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic.

PMID 22771394 2012 How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

PMID 26385972 2016 A Review of X-linked Charcot-Marie-Tooth Disease.

PMID 27844031 2016 Clinical and biophysical characterization of 19 GJB1 mutations.

PMID 21692908 2011 Phenotype expression in women with CMT1X.

PMID 17353473 2007 CMT1X phenotypes represent loss of GJB1 gene function.

PMID 15852376 2005 Severe neuropathy with leaky connexin32 hemichannels.

PMID 12477701 2003 Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

PMID 21282593 2011 A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood.