Gene entry
PDE6H
phosphodiesterase 6H
- Chromosome
- 12
- Cytoband
- 12p12.3
- Variants (rsID)
- 4
PDE6H is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12p12.3). Its official name is “phosphodiesterase 6H”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
1 reference-table entries with clinical significance.
- rs200311463Conflicting interpretationssingle nucleotide variantAchromatopsia 6|Retinal cone dystrophy 3A|PDE6H-Related Disorders
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.