present in Gene: CNGA3
present in Chromosome: 2
Position on Chromosome: 98389696
Alleles of this Variant: C/T
rs104893612 in
CNGA3 gene and
Achromatopsia 2
PMID 15712225 2005 Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
PMID 24903488 2014 Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.
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 11536077 2001 CNGA3 mutations in hereditary cone photoreceptor disorders.
PMID 15743887 2005 Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.
PMID 18521937 2008 Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
PMID 14757870 2004 Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
PMID 26493561 2015 Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.