Variant: rs61749423 

    present in Gene: ABCA4
    present in Chromosome: 1
    Position on Chromosome: 94060656
    Alleles of this Variant: G/A;T

rs61749423 in ABCA4 gene and Leber Congenital Amaurosis PMID 10090887 1999 The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

rs61749423 in ABCA4 gene and Macular dystrophy, concentric annular PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs61749423 in ABCA4 gene and STARGARDT DISEASE 1 (disorder) PMID 19074458 2009 ABCA4 disease progression and a proposed strategy for gene therapy.

PMID 24713488 2014 Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

PMID 25544989 2014 Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.

PMID 10090887 1999 The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 28118664 2017 Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

PMID 24342785 2014 [Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients].