Variant: rs121909595 

    present in Gene: LOC100507443;CRYGD
    present in Chromosome: 2
    Position on Chromosome: 208124321
    Alleles of this Variant: G/A

rs121909595 in LOC100507443;CRYGD gene and CATARACT 4, MULTIPLE TYPES 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 9927684 1999 Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.

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

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

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

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

PMID 10688888 2000 Molecular basis of a progressive juvenile-onset hereditary cataract.

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

rs121909595 in LOC100507443;CRYGD gene and CATARACT, CRYSTALLINE ACULEIFORM PMID 10688888 2000 Molecular basis of a progressive juvenile-onset hereditary cataract.

PMID 16446699 2006 A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family.

PMID 19668596 2009 A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

PMID 28450710 2017 Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.

PMID 19382745 2009 The cataract-associated R14C mutant of human gamma D-crystallin shows a variety of intermolecular disulfide cross-links: a Raman spectroscopic study.