Variant: rs104893967 

    present in Gene: GUCA1A
    present in Chromosome: 6
    Position on Chromosome: 42178374
    Alleles of this Variant: A/G

rs104893967 in GUCA1A gene and CONE DYSTROPHY 3 (disorder) PMID 19459154 2009 Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.

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.

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

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

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

rs104893967 in GUCA1A gene and Macular dystrophy 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.

rs104893967 in GUCA1A gene and Retinitis Pigmentosa 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.