CNGA3 Chromosome 2
Cyclic nucleotide gated channel subunit alpha 3
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 |
|---|---|---|---|
| RS1553450764 | Health Risk | Pathogenic | Achromatopsia, Achromatopsia |
| RS1558808357 | Health Risk | Pathogenic | — |
| RS1558820471 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |
| RS1574385431 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |
| RS1574391103 | Health Risk | Pathogenic | Achromatopsia, Achromatopsia |
| RS1692509021 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |
| RS1692739030 | Health Risk | Pathogenic | Achromatopsia, Achromatopsia |
| RS1692739694 | Health Risk | Pathogenic | — |
| RS1692740329 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1692799480 | Health Risk | Pathogenic | Cone dystrophy, Cone dystrophy |
| RS1692898861 | Health Risk | Pathogenic | Achromatopsia, Achromatopsia |
| RS1692907593 | Health Risk | Pathogenic | — |
| RS1692914478 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |
| RS1692918950 | Health Risk | Pathogenic | — |
| RS1692921014 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |
| RS1692935801 | Health Risk | Pathogenic | — |
| RS201747279 | Health Risk | Pathogenic | Retinal dystrophy, Achromatopsia 2, CNGA3-related disorder |
| RS201782746 | Health Risk | Pathogenic | Retinal dystrophy, Achromatopsia 2, Retinal dystrophy |
| RS2104175554 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |
| RS2104175689 | Health Risk | Pathogenic | — |
| RS2104229154 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |
| RS2104246288 | Health Risk | Pathogenic | — |
| RS2104246962 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |
| RS2104249895 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |
| RS2104250161 | Health Risk | Pathogenic | Achromatopsia, Retinal dystrophy, Achromatopsia |
| RS2466976595 | Health Risk | Pathogenic | — |
| RS2466976948 | Health Risk | Pathogenic | — |
| RS2467027252 | Health Risk | Pathogenic | — |
| RS2467027461 | Health Risk | Pathogenic | — |
| RS2467027887 | Health Risk | Pathogenic | — |
| RS2467028438 | Health Risk | Pathogenic | — |
| RS2467029021 | Health Risk | Pathogenic | — |
| RS2467029025 | Health Risk | Pathogenic | — |
| RS2467029031 | Health Risk | Pathogenic | Cone-rod dystrophy, Cone-rod dystrophy |
| RS2467029198 | Health Risk | Pathogenic | — |
| RS2468060212 | Health Risk | Pathogenic | — |
| RS2468061015 | Health Risk | Pathogenic | — |
| RS368513591 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |
| RS370911601 | Health Risk | Pathogenic | — |
| RS371558158 | Health Risk | Pathogenic | Achromatopsia, Achromatopsia |
| RS375152706 | Health Risk | Pathogenic | maculopathy, maculopathy |
| RS745592705 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |
| RS748583869 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |
| RS749036398 | Health Risk | Pathogenic | Abnormality of the eye, Abnormality of the eye |
| RS750806023 | Health Risk | Pathogenic | — |
| RS753540191 | Health Risk | Pathogenic | — |
| RS754158805 | Health Risk | Pathogenic | Achromatopsia 2, CNGA3-related disorder, Achromatopsia 2 |
| RS757470958 | Health Risk | Pathogenic | Retinal dystrophy, Achromatopsia 2, Retinal dystrophy |
| RS762773298 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |
| RS763041373 | Health Risk | Pathogenic | Achromatopsia 2, Achromatopsia 2 |