Variant: rs1264025914 

    present in Gene: CRYBA1
    present in Chromosome: 17
    Position on Chromosome: 29250301
    Alleles of this Variant: G/A;T

rs1264025914 in CRYBA1 gene and Cataract, Congenital Zonular, with Sutural Opacities PMID 20142846 2010 A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.

PMID 22919269 2012 Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1.

PMID 21850182 2011 A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.

PMID 9788845 1998 Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.

rs1264025914 in CRYBA1 gene and Muscle hypotonia PMID 24926697 2014 Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3.

PMID 15016766 2004 Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract.

PMID 21686330 2011 A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.

PMID 26851658 2016 Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells.

PMID 28149769 2017 A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family.

PMID 25461968 2015 βA3/A1-crystallin: more than a lens protein.