Variant: rs752997229

present in Gene: RILP;PRPF8 present in Chromosome: 17 Position on Chromosome: 1650882 Alleles of this Variant: T/C;G

rs752997229 in RILP;PRPF8 gene and Retinitis Pigmentosa PMID 11468273 2001 Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).