Variant: rs1553262429 

    present in Gene: GJC2
    present in Chromosome: 1
    Position on Chromosome: 228157838
    Alleles of this Variant: G/A

rs1553262429 in GJC2 gene and Dysmorphic features PMID 20537300 2010 GJC2 missense mutations cause human lymphedema.

PMID 22610664 2012 A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

PMID 15192806 2004 Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

PMID 19056803 2009 Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

PMID 23621851 2013 The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.

PMID 21266381 2011 Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

PMID 24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

rs1553262429 in GJC2 gene and Movement Disorders PMID 23621851 2013 The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.

PMID 22610664 2012 A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

PMID 21266381 2011 Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

PMID 24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

PMID 15192806 2004 Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

PMID 20537300 2010 GJC2 missense mutations cause human lymphedema.

PMID 19056803 2009 Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.