Variant: rs121434240 

    present in Gene: PRPF8;RILP
    present in Chromosome: 17
    Position on Chromosome: 1650898
    Alleles of this Variant: G/A;C

rs121434240 in PRPF8;RILP gene and Retinitis Pigmentosa 13 PMID 17317632 2007 Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa.

PMID 12714658 2003 Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

PMID 11468273 2001 Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

PMID 11910553 2002 Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).