Variant: rs121917823 

    present in Gene: GJA3
    present in Chromosome: 13
    Position on Chromosome: 20143101
    Alleles of this Variant: T/C

rs121917823 in GJA3 gene and Cataract, Zonular Pulverulent 3 PMID 21897748 2011 A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.

PMID 21552498 2011 A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

PMID 16971895 2006 "The congenital ""ant-egg"" cataract phenotype is caused by a missense mutation in connexin46."

PMID 25635993 2015 Identification of a novel GJA3 mutation in congenital nuclear cataract.

PMID 30044662 2018 Alterations at Arg76 of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.

PMID 24772942 2013 Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

PMID 22312188 2012 Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.

PMID 21681855 2011 A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.

PMID 26683566 2016 Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.

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

PMID 16885921 2006 A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family.

PMID 17893674 2007 A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.

PMID 10205266 1999 Connexin46 mutations in autosomal dominant congenital cataract.

PMID 16254549 2005 Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.

PMID 14627959 2003 A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.

PMID 15448617 2004 A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract.

PMID 15286166 2004 A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.

PMID 10746562 2000 Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).

PMID 17615540 2007 "A novel ""pearl box"" cataract associated with a mutation in the connexin 46 (GJA3) gene."

PMID 15208569 2004 "A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant ""nuclear punctate"" cataracts linked to chromosome 13q."