Genetics University — Research, Education, Medical Genetics
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Gene entry

CNGA3

cyclic nucleotide gated channel subunit alpha 3

Chromosome
2
Cytoband
2q11.2
Variants (rsID)
22

CNGA3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q11.2). Its official name is “cyclic nucleotide gated channel subunit alpha 3”. The reference table lists 22 variants (rsID) for this gene.

Clinically classified variants

11 reference-table entries with clinical significance.

  • rs104893615Conflicting interpretationssingle nucleotide variantAchromatopsia 2|Achromatopsia|Retinal dystrophy
  • rs116448158Conflicting interpretationssingle nucleotide variantAchromatopsia|Achromatopsia 2
  • rs147118493Conflicting interpretationssingle nucleotide variantAchromatopsia 2|Cone-rod dystrophy
  • rs147415641Conflicting interpretationssingle nucleotide variantAchromatopsia|Achromatopsia 2
  • rs199655686Conflicting interpretationssingle nucleotide variantRetinal dystrophy|Achromatopsia 2
  • rs104893612Pathogenicsingle nucleotide variantAchromatopsia 2
  • rs104893613Pathogenicsingle nucleotide variantAchromatopsia 2|Monochromacy
  • rs104893614Pathogenicsingle nucleotide variantAchromatopsia 2|Achromatopsia|Retinal dystrophy
  • rs104893619Pathogenicsingle nucleotide variantAchromatopsia 2|Achromatopsia
  • rs104893620Pathogenicsingle nucleotide variantAchromatopsia 2|Achromatopsia|Macular degeneration|Photophobia|Color vision defect
  • rs137852608Pathogenicsingle nucleotide variantAchromatopsia 2|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.