Variant: rs387907100 

    present in Gene: PRPF6
    present in Chromosome: 20
    Position on Chromosome: 64027138
    Alleles of this Variant: C/A;T

rs387907100 in PRPF6 gene and RETINITIS PIGMENTOSA 60 PMID 21549338 2011 A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.