Variant: rs55989760 

    present in Gene: CYP1B1
    present in Chromosome: 2
    Position on Chromosome: 38071195
    Alleles of this Variant: C/G;T

rs55989760 in CYP1B1 gene and GLAUCOMA 3, PRIMARY CONGENITAL, A PMID 16688110 2006 Primary role of CYP1B1 in Indian juvenile-onset POAG patients.

PMID 16862072 2006 Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.

PMID 15475877 2004 Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.

PMID 15255109 2004 Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.

PMID 16735994 2006 Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.

PMID 11774072 2002 Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

PMID 15342693 2004 CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.

PMID 14635112 2003 Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.

PMID 14640114 2003 Gene symbol: CYP1B1. Disease: glaucoma, primary congenital.

PMID 16490498 2006 Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.

PMID 11980847 2002 Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.

PMID 12036985 2002 Molecular genetics of primary congenital glaucoma in Brazil.

PMID 10227395 1999 Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.

PMID 9497261 1998 Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

PMID 9463332 1998 Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

PMID 11527932 2001 Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.

PMID 11184479 2000 Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma.

PMID 12525557 2003 CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.

PMID 18470941 2008 Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

PMID 10655546 2000 Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

rs55989760 in CYP1B1 gene and Glaucoma of childhood PMID 18227148 2008 Metabolism of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) by human CYP1B1 genetic variants.

PMID 18537981 2008 Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.

PMID 25109919 2014 [Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report].

PMID 21600657 2011 CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.

PMID 10227395 1999 Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.

PMID 15342693 2004 CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.

PMID 18414103 2008 Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.

PMID 27243976 2016 Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.

PMID 21081970 2011 LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

PMID 21854771 2011 Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.

PMID 27820421 2016 CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.

PMID 27272408 2016 Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

PMID 23218183 2013 Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.

PMID 23218701 2013 CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

PMID 9497261 1998 Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.