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Gene entry

CNGB3

cyclic nucleotide gated channel subunit beta 3

Chromosome
8
Cytoband
8q21.3
Variants (rsID)
39

CNGB3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q21.3). Its official name is “cyclic nucleotide gated channel subunit beta 3”. The reference table lists 39 variants (rsID) for this gene.

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Clinically classified variants

18 reference-table entries with clinical significance.

  • rs35010099Benignsingle nucleotide variantAchromatopsia 3|Severe early-childhood-onset retinal dystrophy|Achromatopsia
  • rs35807406Benignsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Achromatopsia 3|Achromatopsia
  • rs4961206Benignsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Achromatopsia 3|Achromatopsia
  • rs66881636Benignsingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Achromatopsia 3
  • rs147876778Conflicting interpretationssingle nucleotide variantAchromatopsia 3|Abnormality of the eye|Achromatopsia|Retinitis pigmentosa|Severe early-childhood-onset retinal dystrophy
  • rs186448979Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Achromatopsia 3|Achromatopsia
  • rs192448853Conflicting interpretationssingle nucleotide variantAchromatopsia 3
  • rs35365413Conflicting interpretationssingle nucleotide variantSevere early-childhood-onset retinal dystrophy|Achromatopsia 3|Achromatopsia
  • rs397515360Conflicting interpretationsDeletionAchromatopsia 3|Stargardt Disease, Recessive|Achromatopsia|Leber congenital amaurosis|Retinal dystrophy|Abnormality of the eye|Retinitis pigmentosa|CNGB3-Related Disorders|Cone-rod dystrophy
  • rs77277189Likely benignsingle nucleotide variantAchromatopsia
  • rs121918344Pathogenicsingle nucleotide variantAchromatopsia 3
  • rs200805087Pathogenicsingle nucleotide variantAbnormality of the eye|Achromatopsia 3|Achromatopsia
  • rs267606739Pathogenicsingle nucleotide variantAchromatopsia 3|Retinal dystrophy|Achromatopsia
  • rs372006750Pathogenicsingle nucleotide variantAchromatopsia 3|Achromatopsia
  • rs373862340Pathogenicsingle nucleotide variantAchromatopsia 3|Achromatopsia|Retinal dystrophy
  • rs773372519Pathogenicsingle nucleotide variantAchromatopsia 3|Leber congenital amaurosis|Retinal dystrophy
  • rs775796581PathogenicDeletionNystagmus|Abnormal electroretinogram|Achromatopsia 3|Leber congenital amaurosis|Achromatopsia|Retinal dystrophy
  • rs786204762Pathogenicsingle nucleotide variantAchromatopsia 3|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.