Variant: rs121918165 

    present in Gene: LCA5
    present in Chromosome: 6
    Position on Chromosome: 79493636
    Alleles of this Variant: G/A

rs121918165 in LCA5 gene and LEBER CONGENITAL AMAUROSIS 5 PMID 21606596 2011 Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.

PMID 17546029 2007 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 19503738 2009 Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.

PMID 23946133 2013 Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.