Variant: rs1456336365

present in Gene: PDE6A present in Chromosome: 5 Position on Chromosome: 149898502 Alleles of this Variant: A/-

rs1456336365 in PDE6A gene and Movement Disorders PMID 26496393 2015 Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

PMID 26321862 2015 Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.