Variant: rs1264794214 

    present in Gene: AIPL1
    present in Chromosome: 17
    Position on Chromosome: 6433930
    Alleles of this Variant: A/G

rs1264794214 in AIPL1 gene and Leber Congenital Amaurosis 4 PMID 20702822 2011 Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.

PMID 27268253 2016 Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.

PMID 28973376 2017 The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.

PMID 23737531 2013 Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.

PMID 21153841 2011 Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.