Variant: rs150726175 

    present in Gene: NMNAT1
    present in Chromosome: 1
    Position on Chromosome: 9982630
    Alleles of this Variant: G/A

rs150726175 in NMNAT1 gene and LEBER CONGENITAL AMAUROSIS 9 (disorder) PMID 22842229 2012 Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

PMID 22842231 2012 Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.

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

PMID 27032803 2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

PMID 22842227 2012 NMNAT1 mutations cause Leber congenital amaurosis.

PMID 23040504 2012 Genomic stability in reprogramming.

PMID 26103963 2015 Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

PMID 24625443 2014 Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

PMID 24940029 2014 Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

PMID 26018082 2015 Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.

PMID 24830548 2014 Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

rs150726175 in NMNAT1 gene and 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 22842231 2012 Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.

PMID 26018082 2015 Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.

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

PMID 24830548 2014 The p.Glu257Lys variant was 80-fold less frequent in a homozygous state in patients with Leber congenital amaurosis than predicted based on its heterozygosity frequency in the European American population.