Variant: rs552069173 

    present in Gene: CNGA3
    present in Chromosome: 2
    Position on Chromosome: 98396858
    Alleles of this Variant: G/A

rs552069173 in CNGA3 gene and Abnormality of the eye PMID 11536077 2001 CNGA3 mutations in hereditary cone photoreceptor disorders.

rs552069173 in CNGA3 gene and Achromatopsia 2 PMID 9662398 1998 Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

PMID 26493561 2015 Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.

PMID 15712225 2005 Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

PMID 15743887 2005 Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.

PMID 14757870 2004 Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

PMID 24903488 2014 Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.

PMID 11536077 2001 CNGA3 mutations in hereditary cone photoreceptor disorders.

PMID 18521937 2008 Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.