Gene entry
PDE6B
phosphodiesterase 6B
- Chromosome
- 4
- Cytoband
- 4p16.3
- Variants (rsID)
- 28
PDE6B is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4p16.3). Its official name is “phosphodiesterase 6B”. The reference table lists 28 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs28675771Benignsingle nucleotide variantCongenital stationary night blindness autosomal dominant 2|Retinitis pigmentosa|Retinitis pigmentosa 40
- rs79826315Benignsingle nucleotide variantCongenital stationary night blindness autosomal dominant 2|Retinitis pigmentosa
- rs115775983Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Congenital stationary night blindness autosomal dominant 2
- rs141563823Conflicting interpretationssingle nucleotide variantCongenital stationary night blindness autosomal dominant 2|Retinitis pigmentosa|Retinitis pigmentosa 40
- rs144562730Conflicting interpretationssingle nucleotide variantCongenital stationary night blindness autosomal dominant 2|Retinitis pigmentosa
- rs145124626Conflicting interpretationssingle nucleotide variantCongenital stationary night blindness autosomal dominant 2|Retinitis pigmentosa
- rs62295357Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Congenital stationary night blindness autosomal dominant 2
- rs121918579Pathogenicsingle nucleotide variantRetinitis pigmentosa 40|Retinitis pigmentosa|Retinal dystrophy
- rs121918583Pathogenicsingle nucleotide variantRetinitis pigmentosa 40|Autosomal recessive retinitis pigmentosa
- rs876657718Pathogenicsingle nucleotide variantRetinitis pigmentosa|Retinal dystrophy
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.