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.
