Variant: rs28931605 

    present in Gene: LOC100507443;CRYGD
    present in Chromosome: 2
    Position on Chromosome: 208124294
    Alleles of this Variant: G/A;T

rs28931605 in LOC100507443;CRYGD gene and CATARACT 4, MULTIPLE TYPES PMID 10688888 2000 Molecular basis of a progressive juvenile-onset hereditary cataract.

PMID 21031598 2011 A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.

PMID 10915766 2000 Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography.

PMID 11371638 2001 Crystal cataracts: human genetic cataract caused by protein crystallization.

PMID 15709761 2005 Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.

PMID 9927684 1999 Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.

PMID 12676897 2003 Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.

PMID 12011157 2002 Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.

PMID 17564961 2007 Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state.

PMID 10521291 1999 The gamma-crystallins and human cataracts: a puzzle made clearer.

PMID 16943771 2006 Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene.

rs28931605 in LOC100507443;CRYGD gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.