CNGA3 Chromosome 2

Cyclic nucleotide gated channel subunit alpha 3
238 variants 238 Health Risk

Upload your DNA to see your personal genotypes for variants in CNGA3.

What This Gene Does
This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cyclic nucleotide gated channels
Locus Type
gene with protein product
Location
2q11.2
Ensembl
ENSG00000144191
Associated Conditions (18)
Achromatopsia 2
Retinal dystrophy
Achromatopsia
Inborn genetic diseases
CNGA3-related disorder
CNGA3-related retinopathy
Cone dystrophy
Cone-rod dystrophy
Monochromacy
Macular dystrophy
Abnormality of the eye
maculopathy
Achromatopsia 3
Color vision defect
Macular degeneration
Photophobia
Optic atrophy
Retinal disorder
Key Variants
RS104893612
Conflicting classifications of pathogenicity
Achromatopsia 2, Retinal dystrophy, Achromatopsia
Health Risk
RS114108462
Conflicting classifications of pathogenicity
Achromatopsia 2, Achromatopsia 2
Health Risk
RS116448158
Conflicting classifications of pathogenicity
Achromatopsia, Achromatopsia 2, CNGA3-related disorder
Health Risk
RS1277409725
Conflicting classifications of pathogenicity
Health Risk
RS1293852552
Conflicting classifications of pathogenicity
Achromatopsia 2, Achromatopsia 2
Health Risk
RS1377555853
Conflicting classifications of pathogenicity
Retinal dystrophy, Achromatopsia 2, Retinal dystrophy
Health Risk
RS137950660
Conflicting classifications of pathogenicity
Achromatopsia 2, Achromatopsia 2
Health Risk
RS138921037
Conflicting classifications of pathogenicity
Achromatopsia 2, Achromatopsia 2
Health Risk
RS138934573
Conflicting classifications of pathogenicity
Achromatopsia 2, Inborn genetic diseases, Achromatopsia 2
Health Risk
RS139544302
Conflicting classifications of pathogenicity
Achromatopsia 2, Achromatopsia 2
Health Risk
RS141086649
Conflicting classifications of pathogenicity
Achromatopsia 2, CNGA3-related retinopathy, Achromatopsia 2
Health Risk
RS142837782
Conflicting classifications of pathogenicity
Achromatopsia 2, CNGA3-related disorder, Inborn genetic diseases
Health Risk
All Variants (238)
RSID Category Clinical Significance Conditions
RS764918448 Health Risk Pathogenic Achromatopsia 2, Retinal dystrophy, Achromatopsia 2
RS766331925 Health Risk Pathogenic —
RS767904913 Health Risk Pathogenic —
RS772259302 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS777753722 Health Risk Pathogenic —
RS778114016 Health Risk Pathogenic Achromatopsia 2, Retinal dystrophy, Achromatopsia
RS778373042 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS779023431 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS786205532 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS910710420 Health Risk Pathogenic —
RS916035276 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS958089715 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS104893613 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Monochromacy, Retinal dystrophy
RS104893615 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Retinal dystrophy, Achromatopsia
RS104893619 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia, CNGA3-related retinopathy
RS104893620 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia, Color vision defect
RS1211845337 Health Risk Pathogenic/Likely pathogenic —
RS1311451829 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS138958917 Health Risk Pathogenic/Likely pathogenic Achromatopsia, Retinal dystrophy, Achromatopsia 2
RS1558820134 Health Risk Pathogenic/Likely pathogenic Achromatopsia, Achromatopsia 2, Achromatopsia
RS1692508715 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Achromatopsia 2, Retinal dystrophy
RS1692904914 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS183838250 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Achromatopsia 2, Retinal dystrophy
RS2104249119 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2467027312 Health Risk Pathogenic/Likely pathogenic —
RS369281115 Health Risk Pathogenic/Likely pathogenic —
RS545114991 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS552069173 Health Risk Pathogenic/Likely pathogenic Abnormality of the eye, Retinal dystrophy, Achromatopsia 2
RS552553452 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Achromatopsia 2, Retinal dystrophy
RS747447519 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, CNGA3-related disorder, Retinal dystrophy
RS749842881 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Achromatopsia 2, Achromatopsia 3
RS753625117 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS756172609 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS757167624 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS762668060 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS770713600 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Retinal disorder, Achromatopsia 2
RS777509481 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia, Achromatopsia 2
RS777878533 Health Risk Pathogenic/Likely pathogenic Achromatopsia, Retinal dystrophy, Achromatopsia 2
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