Variant: rs104893968 

    present in Gene: GUCA1A
    present in Chromosome: 6
    Position on Chromosome: 42173762
    Alleles of this Variant: C/G;T

rs104893968 in GUCA1A gene and CONE DYSTROPHY 3 (disorder) PMID 15790869 2005 A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).

PMID 15735604 2005 Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).

PMID 11484154 2001 Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.

PMID 19459154 2009 Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.

PMID 11108966 2000 Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1).

PMID 15505030 2004 A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.

PMID 9425234 1998 A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.

PMID 11146732 2001 Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.

rs104893968 in GUCA1A gene and Macular dystrophy PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs104893968 in GUCA1A gene and Usher Syndrome PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.