present in Gene: ABCA4
present in Chromosome: 1
Position on Chromosome: 94021848
Alleles of this Variant: C/T
rs113106943 in
ABCA4 gene and
Cone Dystrophy
PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
rs113106943 in
ABCA4 gene and
STARGARDT DISEASE 1 (disorder)
PMID 25346251 2015 An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.
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.