Variant: rs104893740 

    present in Gene: GNAT1
    present in Chromosome: 3
    Position on Chromosome: 50193139
    Alleles of this Variant: G/A

rs104893740 in GNAT1 gene and Night Blindness, Congenital Stationary, Autosomal Dominant 3 PMID 17584859 2007 p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.

PMID 8673138 1996 Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.