Variant: rs121918287 

    present in Gene: BEST1;LOC107984334;FTH1
    present in Chromosome: 11
    Position on Chromosome: 61959892
    Alleles of this Variant: G/A

rs121918287 in BEST1;LOC107984334;FTH1 gene and BESTROPHINOPATHY, AUTOSOMAL RECESSIVE PMID 19853238 2009 Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

PMID 26200502 2015 Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.

PMID 18179881 2008 Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

PMID 26720466 2015 A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

PMID 21330666 2011 Two ARB-associated mutants (p.D312N and p.V317M) that were not trafficked correctly nor targeted to the proteasome had a distinctive appearance, possibly indicative of aggresome or aggresome-like inclusion bodies.