present in Gene: CNGA3
present in Chromosome: 2
Position on Chromosome: 98396575
Alleles of this Variant: G/A;T
rs117522010 in
CNGA3 gene and
Cone Dystrophy
PMID 18521937 2008 Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.