Variant: rs121918288 

    present in Gene: BEST1
    present in Chromosome: 11
    Position on Chromosome: 61951928
    Alleles of this Variant: T/C

rs121918288 in BEST1 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 22234150 2012 Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

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

PMID 21330666 2011 Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

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

rs121918288 in BEST1 gene and Vitelliform Macular Dystrophy PMID 21330666 2011 Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

PMID 10331951 1999 Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.

PMID 12324875 2002 Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.

PMID 18400985 2008 Bestrophin Cl- channels are highly permeable to HCO3-.

PMID 15176385 2004 Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2).

PMID 19357557 2009 Clinical and molecular genetic analysis of best vitelliform macular dystrophy.

PMID 12187431 2002 Identification of a novel VMD2 mutation in Japanese patients with Best disease.

PMID 13129869 2003 Phenotype and genotype correlations in two best families.

PMID 18766995 2008 Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.

PMID 10682987 2000 A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case.

PMID 10453731 1999 Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.

PMID 10394929 1999 The mutation spectrum of the bestrophin protein--functional implications.

PMID 14517959 2003 Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).

PMID 11449320 2001 Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.

PMID 11241846 2001 Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.

PMID 10798642 2000 Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.

PMID 9662395 1998 Identification of the gene responsible for Best macular dystrophy.

PMID 9700209 1998 Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).