Gene entry
PDE6C
phosphodiesterase 6C
- Chromosome
- 10
- Cytoband
- 10q23.33
- Variants (rsID)
- 23
PDE6C is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q23.33). Its official name is “phosphodiesterase 6C”. The reference table lists 23 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs182445749Benignsingle nucleotide variantCone dystrophy 4|Achromatopsia
- rs616522Benignsingle nucleotide variantAchromatopsia|Cone dystrophy 4
- rs62642544Benignsingle nucleotide variantCone dystrophy 4|Achromatopsia
- rs142876079Conflicting interpretationssingle nucleotide variantCone dystrophy 4|Achromatopsia
- rs45522236Conflicting interpretationssingle nucleotide variantCone dystrophy 4|Achromatopsia
- rs374805348Pathogenicsingle nucleotide variant
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.