Variant: rs62637014 

    present in Gene: AIPL1
    present in Chromosome: 17
    Position on Chromosome: 6425781
    Alleles of this Variant: C/T

rs62637014 in AIPL1 gene and Leber Congenital Amaurosis PMID 10615133 2000 Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs62637014 in AIPL1 gene and Leber Congenital Amaurosis 4 PMID 15347646 2004 The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments.

PMID 21474771 2011 Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.

PMID 25799540 2015 The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.

PMID 15249368 2004 The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.

PMID 10615133 2000 Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

PMID 22412862 2012 Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

PMID 10873396 2000 Prevalence of AIPL1 mutations in inherited retinal degenerative disease.