CNGB1 Chromosome 16
Cyclic nucleotide gated channel subunit beta 1
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What This Gene Does
In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Gene Info
Gene Group
Cyclic nucleotide gated channels
Locus Type
gene with protein product
Location
16q21
Ensembl
ENSG00000070729
Associated Conditions (10)
Retinitis pigmentosa 45
Retinitis pigmentosa
Retinal dystrophy
Inborn genetic diseases
Optic atrophy
CNGB1-related disorder
CNGB1-related retinopathy
Autosomal recessive retinitis pigmentosa
See cases
Retinitis pigmentosa 49
Key Variants
RS1052029
Conflicting classifications of pathogenicity
Retinitis pigmentosa 45, Retinitis pigmentosa, Retinitis pigmentosa 45
Health Risk
RS1209021925
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1251833902
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1286857064
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS1394513954
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS141566950
Conflicting classifications of pathogenicity
Health Risk
RS145234666
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS145325764
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146170855
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Optic atrophy, Inborn genetic diseases
Health Risk
RS147593839
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa, Retinal dystrophy
Health Risk
RS148555948
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148735841
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 45, Retinitis pigmentosa
Health Risk
All Variants (229)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS776312649 | Health Risk | Pathogenic | — |
| RS776433637 | Health Risk | Pathogenic | — |
| RS777876683 | Health Risk | Pathogenic | — |
| RS780961773 | Health Risk | Pathogenic | — |
| RS797044693 | Health Risk | Pathogenic | — |
| RS878853394 | Health Risk | Pathogenic | Retinal dystrophy, Retinitis pigmentosa 45, Retinitis pigmentosa |
| RS1064794342 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 45, CNGB1-related retinopathy, Retinitis pigmentosa 45 |
| RS1210263161 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 45, Retinal dystrophy |
| RS1365926616 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinal dystrophy |
| RS1427995653 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 45, Retinitis pigmentosa 45 |
| RS1468272829 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa, Retinal dystrophy |
| RS1961362638 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 45, Retinal dystrophy |
| RS1962422577 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS201286463 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 45, Retinitis pigmentosa |
| RS2544630794 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2544636557 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 45, Retinitis pigmentosa 45 |
| RS368329828 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 45, Retinitis pigmentosa 45 |
| RS375519490 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 45, Retinitis pigmentosa 45 |
| RS527236060 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 45, Retinitis pigmentosa |
| RS749199721 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 45, Retinitis pigmentosa, Retinal dystrophy |
| RS750222574 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 45, Retinitis pigmentosa 45 |
| RS750225817 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 45, Retinal dystrophy |
| RS755036276 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 45, Retinitis pigmentosa 45 |
| RS756806434 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 45 |
| RS760430056 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa, Retinitis pigmentosa 45 |
| RS770011113 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa, Retinitis pigmentosa 45 |
| RS778884136 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 45, Retinitis pigmentosa 45 |
| RS865818297 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 45, Retinitis pigmentosa 45 |
| RS888090139 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 45 |