Variant: rs121918567 

    present in Gene: PRPH2
    present in Chromosome: 6
    Position on Chromosome: 42704609
    Alleles of this Variant: C/A;T

rs121918567 in PRPH2 gene and CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 PMID 26796962 2016 In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

PMID 19038374 2009 Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

PMID 20213611 2011 PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.

PMID 16832026 2006 Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.

rs121918567 in PRPH2 gene and Cone-Rod Dystrophies PMID 14557183 2003 Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene.

PMID 22183351 2012 Genes and mutations in autosomal dominant cone and cone-rod dystrophy.

PMID 15779916 2005 Role of the second intradiscal loop of peripherin/rds in homo and hetero associations.