CNGA1 Chromosome 4

Cyclic nucleotide gated channel subunit alpha 1
94 variants 94 Health Risk

Upload your DNA to see your personal genotypes for variants in CNGA1.

What This Gene Does
The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019]
Gene Info
Gene Group
Cyclic nucleotide gated channels
Locus Type
gene with protein product
Location
4p12
Ensembl
ENSG00000198515
Associated Conditions (9)
Retinitis pigmentosa
CNGA1-related disorder
Retinitis pigmentosa 49
Retinal dystrophy
Inborn genetic diseases
See cases
CNGA1-related retinopathy
Macular dystrophy
Cone-rod dystrophy
Key Variants
RS140419673
Conflicting classifications of pathogenicity
Retinitis pigmentosa, CNGA1-related disorder, Retinitis pigmentosa
Health Risk
RS147591591
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS149504668
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS183197573
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS187802155
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS192912733
Conflicting classifications of pathogenicity
Retinitis pigmentosa 49, Retinitis pigmentosa, Retinitis pigmentosa 49
Health Risk
RS201341924
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS201553765
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS367772790
Conflicting classifications of pathogenicity
Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy
Health Risk
RS368137821
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS371238926
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS748126956
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 49, Retinal dystrophy
Health Risk
All Variants (94)
RSID Category Clinical Significance Conditions
RS1739215940 Health Risk Pathogenic —
RS1739811126 Health Risk Pathogenic —
RS199636364 Health Risk Pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa, Retinal dystrophy
RS200766377 Health Risk Pathogenic —
RS2110128153 Health Risk Pathogenic —
RS2110128608 Health Risk Pathogenic —
RS2110129031 Health Risk Pathogenic —
RS2110130838 Health Risk Pathogenic —
RS2110139489 Health Risk Pathogenic —
RS2110157889 Health Risk Pathogenic —
RS2475745208 Health Risk Pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS2475749170 Health Risk Pathogenic —
RS2475752862 Health Risk Pathogenic —
RS2475753166 Health Risk Pathogenic —
RS2475768323 Health Risk Pathogenic —
RS2475768684 Health Risk Pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS2475768752 Health Risk Pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS2475782005 Health Risk Pathogenic —
RS2475783849 Health Risk Pathogenic —
RS2475816188 Health Risk Pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS527236058 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 49, Retinitis pigmentosa
RS544588016 Health Risk Pathogenic Retinitis pigmentosa 49, CNGA1-related retinopathy, Retinitis pigmentosa 49
RS567961453 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS748902647 Health Risk Pathogenic —
RS759781200 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 49, Retinal dystrophy
RS762706687 Health Risk Pathogenic —
RS764594811 Health Risk Pathogenic —
RS867483436 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS910102517 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1037963003 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1237954156 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, CNGA1-related disorder, Retinitis pigmentosa 49
RS1246377488 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS1436425494 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, CNGA1-related disorder, Retinitis pigmentosa 49
RS1443039086 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS1476546899 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS1560616550 Health Risk Pathogenic/Likely pathogenic —
RS199584830 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa, Retinitis pigmentosa 49
RS369717052 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS376959147 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS62625014 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa, Macular dystrophy
RS749012133 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinal dystrophy, Retinitis pigmentosa
RS768694789 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa, Retinitis pigmentosa 49
RS772867912 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, CNGA1-related disorder, Retinitis pigmentosa 49
RS777235692 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
« Prev 1 2
Sign Up to Analyze Your DNA Log In