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
RS2104249574 Health Risk Likely pathogenic —
RS2104249738 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104250058 Health Risk Likely pathogenic Achromatopsia 2, Retinal dystrophy, Achromatopsia 2
RS2104250253 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2466977700 Health Risk Likely pathogenic —
RS2466995573 Health Risk Likely pathogenic —
RS2467010443 Health Risk Likely pathogenic —
RS2467010841 Health Risk Likely pathogenic —
RS2467028405 Health Risk Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS2467028835 Health Risk Likely pathogenic —
RS2467029136 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2467029530 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2468060681 Health Risk Likely pathogenic Achromatopsia, Achromatopsia
RS372215423 Health Risk Likely pathogenic —
RS374258471 Health Risk Likely pathogenic Achromatopsia 2, Retinal dystrophy, Achromatopsia 2
RS375928335 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS571419754 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS750456621 Health Risk Likely pathogenic —
RS753692812 Health Risk Likely pathogenic —
RS757650055 Health Risk Likely pathogenic Achromatopsia 2, Retinal dystrophy, Achromatopsia 2
RS761554853 Health Risk Likely pathogenic Retinal dystrophy, Achromatopsia 2, Retinal dystrophy
RS771172885 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS773410146 Health Risk Likely pathogenic —
RS775262372 Health Risk Likely pathogenic —
RS776262284 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS781227859 Health Risk Likely pathogenic Achromatopsia, Achromatopsia 2, Achromatopsia
RS786205531 Health Risk Likely pathogenic —
RS878853359 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS943314733 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS104893616 Health Risk Pathogenic Achromatopsia 2, Retinal dystrophy, Achromatopsia 2
RS104893617 Health Risk Pathogenic Achromatopsia 2, Monochromacy, Retinal dystrophy
RS104893621 Health Risk Pathogenic Achromatopsia 2, Achromatopsia, Retinal dystrophy
RS1050579652 Health Risk Pathogenic —
RS1227761587 Health Risk Pathogenic Retinal dystrophy, Achromatopsia 2, Retinal dystrophy
RS1325419198 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1330420689 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS1354042829 Health Risk Pathogenic Retinal dystrophy, Achromatopsia 2, Retinal dystrophy
RS1362318397 Health Risk Pathogenic —
RS1374130283 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS137852608 Health Risk Pathogenic Achromatopsia 2, Retinal dystrophy, Achromatopsia 2
RS1386641968 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS1388470784 Health Risk Pathogenic —
RS1402442627 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS141386891 Health Risk Pathogenic Achromatopsia, Macular dystrophy, Retinal dystrophy
RS1432305934 Health Risk Pathogenic —
RS1434100445 Health Risk Pathogenic —
RS1443129647 Health Risk Pathogenic —
RS1459484455 Health Risk Pathogenic —
RS1464167194 Health Risk Pathogenic Cone-rod dystrophy, Achromatopsia, Achromatopsia 2
RS1553450762 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
« Prev 1 2 3 4 5 Next »
Sign Up to Analyze Your DNA Log In