CNGB3 gene mutation

Clinical significance

• CNGB3 gene mutations are a cause of
  • achromatopsia 3
  • Stargardt disease type 1

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• Cyclic-nucleotide-gated cation channel beta 3 (CNG channel beta 3, cone photoreceptor cGMP-gated channel beta subunit, cyclic nucleotide-gated cation channel modulatory subunit, CNGB3)