Variant: rs1348467293 

    present in Gene: GUCY2D
    present in Chromosome: 17
    Position on Chromosome: 8007529
    Alleles of this Variant: G/A

rs1348467293 in GUCY2D gene and Dysmorphic features PMID 24997176 2014 Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

PMID 20517349 2010 A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

PMID 25515582 2014 Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

PMID 29061346 2018 Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.

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

PMID 10951519 2000 Spectrum of retGC1 mutations in Leber's congenital amaurosis.

PMID 19959640 2010 Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.

PMID 17651254 2007 Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.

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.

rs1348467293 in GUCY2D gene and Multiple congenital anomalies PMID 17651254 2007 Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.

PMID 10951519 2000 Spectrum of retGC1 mutations in Leber's congenital amaurosis.

PMID 20517349 2010 A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

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

PMID 24997176 2014 Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

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 29061346 2018 Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.

PMID 19959640 2010 Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.

PMID 25515582 2014 Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.