Variant: rs139185976 

    present in Gene: PRPH2
    present in Chromosome: 6
    Position on Chromosome: 42704570
    Alleles of this Variant: C/T

rs139185976 in PRPH2 gene and Macular dystrophy PMID 9279751 1997 RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs139185976 in PRPH2 gene and Retinitis Pigmentosa 7 PMID 1684223 1991 Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

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

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

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 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 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 11485765 2001 Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.

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

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

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