Variant: rs1553242554 

    present in Gene: GJA8
    present in Chromosome: 1
    Position on Chromosome: 147908091
    Alleles of this Variant: G/A

rs1553242554 in GJA8 gene and Muscle hypotonia PMID 20806042 2010 A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.

PMID 27785597 2017 Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.

PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.