Variant: rs1208495291 

    present in Gene: NMNAT1
    present in Chromosome: 1
    Position on Chromosome: 9982613
    Alleles of this Variant: A/C

rs1208495291 in NMNAT1 gene and LEBER CONGENITAL AMAUROSIS 9 (disorder) PMID 22842231 2012 Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.

PMID 22842227 2012 NMNAT1 mutations cause Leber congenital amaurosis.

PMID 22842230 2012 Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

PMID 22842229 2012 Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.