Variant: rs121918563 

    present in Gene: PRPH2
    present in Chromosome: 6
    Position on Chromosome: 42721781
    Alleles of this Variant: A/G

rs121918563 in PRPH2 gene and Retinitis Pigmentosa 7 PMID 11485765 2001 Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.

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 1684223 1991 Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

PMID 10627133 1998 Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online.

PMID 1749427 1991 A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

PMID 16799052 2006 Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

PMID 8020945 1994 A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.

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

PMID 22334370 2012 Next-generation genetic testing for retinitis pigmentosa.

PMID 7862413 1995 A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

PMID 1427912 1992 Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.