CNGA1 Chromosome 4
Cyclic nucleotide gated channel subunit alpha 1
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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 |
|---|---|---|---|
| RS140419673 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, CNGA1-related disorder, Retinitis pigmentosa |
| RS147591591 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS149504668 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS183197573 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS187802155 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS192912733 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 49, Retinitis pigmentosa, Retinitis pigmentosa 49 |
| RS201341924 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS201553765 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS367772790 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy |
| RS368137821 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS371238926 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS748126956 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa 49, Retinal dystrophy |
| RS749990018 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS750954043 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 49, Retinitis pigmentosa, Retinitis pigmentosa 49 |
| RS752257711 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS759079269 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS76061451 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa 49, Retinitis pigmentosa |
| RS761341105 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS76537883 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS765792753 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa 49, Retinitis pigmentosa |
| RS777903781 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS794727950 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS965734036 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa 49, Retinal dystrophy |
| RS1314598960 | Health Risk | Likely pathogenic | — |
| RS1578059695 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1578066770 | Health Risk | Likely pathogenic | — |
| RS1738673948 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1738698692 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2110127572 | Health Risk | Likely pathogenic | Retinitis pigmentosa 49, Retinitis pigmentosa 49 |
| RS2110141740 | Health Risk | Likely pathogenic | — |
| RS2475748633 | Health Risk | Likely pathogenic | Retinitis pigmentosa 49, Retinitis pigmentosa 49 |
| RS2475748768 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS527236059 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS539600817 | Health Risk | Likely pathogenic | Retinitis pigmentosa, See cases, Retinitis pigmentosa 49 |
| RS761947277 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS764086464 | Health Risk | Likely pathogenic | Retinitis pigmentosa 49, Retinitis pigmentosa 49 |
| RS767994904 | Health Risk | Likely pathogenic | Retinitis pigmentosa 49, Retinitis pigmentosa 49 |
| RS1174222059 | Health Risk | Pathogenic | — |
| RS1176571450 | Health Risk | Pathogenic | — |
| RS121909599 | Health Risk | Pathogenic | Retinitis pigmentosa 49, Retinitis pigmentosa 49 |
| RS121909600 | Health Risk | Pathogenic | Retinitis pigmentosa 49, Retinitis pigmentosa 49 |
| RS1304172230 | Health Risk | Pathogenic | — |
| RS1304811464 | Health Risk | Pathogenic | — |
| RS1428479359 | Health Risk | Pathogenic | CNGA1-related disorder, CNGA1-related disorder |
| RS1490804242 | Health Risk | Pathogenic | — |
| RS1560621807 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1738688368 | Health Risk | Pathogenic | — |
| RS1738701040 | Health Risk | Pathogenic | Retinitis pigmentosa 49, Retinitis pigmentosa 49 |
| RS1738719686 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1739025907 | Health Risk | Pathogenic | — |