Variant: rs121434643 

    present in Gene: GJA8
    present in Chromosome: 1
    Position on Chromosome: 147908094
    Alleles of this Variant: G/A;C

rs121434643 in GJA8 gene and Cataract, Zonular Pulverulent 1 PMID 18006672 2008 A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.

PMID 10480374 1999 "Connexin 50 mutation in a family with congenital ""zonular nuclear"" pulverulent cataract of Pakistani origin."

PMID 23508780 2013 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

PMID 9497259 1998 "A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant ""zonular pulverulent"" cataract, on chromosome 1q."

PMID 14627691 2003 A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.

PMID 21174522 2011 Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.

PMID 21921990 2011 Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.

PMID 16604058 2006 Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.

PMID 11846744 2001 Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.

PMID 16234473 2005 Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.