Variant: rs146150511

present in Gene: RBP3 present in Chromosome: 10 Position on Chromosome: 47353508 Alleles of this Variant: G/A

rs146150511 in RBP3 gene and RETINITIS PIGMENTOSA 66 PMID 19074801 2009 A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.

PMID 23486466 2013 Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP).