Variant: rs398124615 

    present in Gene: CRB1
    present in Chromosome: 1
    Position on Chromosome: 197328844
    Alleles of this Variant: AATTGATGG/-;AATTGATGGAATTGATGG

rs398124615 in CRB1 gene and BESTROPHINOPATHY, AUTOSOMAL RECESSIVE PMID 28181551 2017 Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

PMID 28819299 2017 The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.

PMID 23379534 2013 High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.

PMID 27258436 2016 Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

rs398124615 in CRB1 gene and Macular dystrophy PMID 29391521 2018 A clinical and molecular characterisation of CRB1-associated maculopathy.

PMID 17297678 2006 Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510.