Variant: rs121918581 

    present in Gene: PDE6B
    present in Chromosome: 4
    Position on Chromosome: 662188
    Alleles of this Variant: C/T

rs121918581 in PDE6B gene and RETINITIS PIGMENTOSA 40 (disorder) PMID 8394174 1993 Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

PMID 8595886 1995 Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.

PMID 8557257 1996 A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.

PMID 8698075 1996 Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa.

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

PMID 9543643 1998 A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa.

PMID 8956055 1996 Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.