Variant: rs61750173 

    present in Gene: GUCY2D
    present in Chromosome: 17
    Position on Chromosome: 8014701
    Alleles of this Variant: G/A

rs61750173 in GUCY2D gene and Retinal Dystrophies PMID 11565546 2001 Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.

rs61750173 in GUCY2D gene and Retinal cone dystrophy 2 PMID 12552567 2003 Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.

PMID 9618177 1998 Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

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

PMID 22194653 2011 A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.

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

PMID 21552474 2011 Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.

PMID 24480840 2014 A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.

PMID 23734073 2013 A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.

PMID 18487367 2008 Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

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

PMID 15111605 2004 Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.

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

PMID 18332321 2008 New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.

PMID 9683616 1998 A retGC-1 mutation in autosomal dominant cone-rod dystrophy.