Variant: rs121917744 

    present in Gene: RPE65
    present in Chromosome: 1
    Position on Chromosome: 68438228
    Alleles of this Variant: G/A;T

rs121917744 in RPE65 gene and LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) PMID 11462243 2001 Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.

PMID 10090910 1999 Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.

PMID 14962443 2004 Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.

PMID 14611946 2003 Analysis of three genes in Leber congenital amaurosis in Indonesian patients.

PMID 10766140 2000 Mutation analysis of 3 genes in patients with Leber congenital amaurosis.

PMID 9801879 1999 Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.

PMID 15024725 2004 Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

PMID 16205573 2005 Evaluation of genotype-phenotype associations in leber congenital amaurosis.

PMID 17724218 2007 Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

PMID 9326927 1997 Mutations in RPE65 cause Leber's congenital amaurosis.

PMID 9326941 1997 Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.

PMID 17297704 2006 Gene symbol: RPE65. Disease: Leber's congenital amaurosis. Accession #Hm0548.

PMID 16828753 2006 Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65.

PMID 28418496 2017 Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

PMID 18682808 2008 Molecular characterization of Leber congenital amaurosis in Koreans.

rs121917744 in RPE65 gene and Retinitis Pigmentosa 20 PMID 16828753 2006 Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65.