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
RS767083685 Health Risk Conflicting classifications of pathogenicity —
RS769433253 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Inborn genetic diseases, Achromatopsia 2
RS774676415 Health Risk Conflicting classifications of pathogenicity Achromatopsia, Achromatopsia
RS775332304 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Achromatopsia 2, Retinal dystrophy
RS778000601 Health Risk Conflicting classifications of pathogenicity Cone dystrophy, Cone dystrophy
RS780411290 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS886056490 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS949254623 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS104893614 Health Risk Likely pathogenic Achromatopsia 2, Retinal dystrophy, Achromatopsia
RS1064797258 Health Risk Likely pathogenic —
RS117522010 Health Risk Likely pathogenic Cone dystrophy, Cone dystrophy
RS1210775452 Health Risk Likely pathogenic —
RS1282613813 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS1330263985 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS1377331975 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS149802213 Health Risk Likely pathogenic Retinal dystrophy, Achromatopsia, Achromatopsia 2
RS1553450895 Health Risk Likely pathogenic —
RS1553450979 Health Risk Likely pathogenic —
RS1558811557 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia, Achromatopsia 2
RS1574390600 Health Risk Likely pathogenic Achromatopsia, Achromatopsia
RS1574390811 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS1692797868 Health Risk Likely pathogenic —
RS1692906608 Health Risk Likely pathogenic —
RS1692911763 Health Risk Likely pathogenic —
RS1692915919 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1692916541 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS1692928194 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1692930941 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1692932180 Health Risk Likely pathogenic —
RS199474697 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia, Achromatopsia 2
RS201713771 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104205990 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104206033 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104213507 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104229884 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104229897 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104230007 Health Risk Likely pathogenic —
RS2104235566 Health Risk Likely pathogenic CNGA3-related retinopathy, Achromatopsia 2, CNGA3-related retinopathy
RS2104235623 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104236067 Health Risk Likely pathogenic Achromatopsia 2, Retinal dystrophy, Achromatopsia 2
RS2104245397 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104246318 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104246464 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104246690 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104247035 Health Risk Likely pathogenic —
RS2104247562 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104248036 Health Risk Likely pathogenic —
RS2104248068 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104248132 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104248683 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
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