Variant: rs61750168 

    present in Gene: GUCY2D
    present in Chromosome: 17
    Position on Chromosome: 8013918
    Alleles of this Variant: C/G;T

rs61750168 in GUCY2D gene and Amaurosis congenita of Leber, type 1 PMID 15123990 2004 Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

PMID 16505055 2006 Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

PMID 17724218 2007 Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

PMID 27475985 2016 Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.

PMID 23035049 2013 Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

PMID 26626312 2016 Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.

PMID 9888789 1999 Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis.

PMID 12365911 2002 Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

PMID 20050595 2010 A similar effect was observed with another LCA-related mutation, R768W, in the same domain of RetGC1.

PMID 25477517 2015 Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1.

PMID 30319355 2018 Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis.

PMID 26253563 2015 Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast.

PMID 21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PMID 11035546 2000 Mutational analysis and clinical correlation in Leber congenital amaurosis.

PMID 8944027 1996 Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

rs61750168 in GUCY2D gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs61750168 in GUCY2D gene and Retinal cone dystrophy 2 PMID 20050595 2010 Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations.

PMID 25477517 2015 Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1.

PMID 23035049 2013 Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

PMID 16505055 2006 Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

PMID 17724218 2007 Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

PMID 26253563 2015 Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast.

PMID 26626312 2016 Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.