CNGB3 Chromosome 8
Cyclic nucleotide gated channel subunit beta 3
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What This Gene Does
This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Cyclic nucleotide gated channels
Locus Type
gene with protein product
Location
8q21.3
Ensembl
ENSG00000170289
Associated Conditions (17)
Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Achromatopsia
CNGB3-related disorder
Retinal dystrophy
CNGB3-related retinopathy
Inborn genetic diseases
Abnormality of the eye
Retinitis pigmentosa
Colon adenocarcinoma
Macular dystrophy
Leber congenital amaurosis
Abnormal electroretinogram
Nystagmus
Cone-rod dystrophy
Optic atrophy
Retinal disorder
Key Variants
RS112573107
Conflicting classifications of pathogenicity
Achromatopsia 3, Severe early-childhood-onset retinal dystrophy, Achromatopsia
Health Risk
RS115246141
Conflicting classifications of pathogenicity
Achromatopsia 3, Severe early-childhood-onset retinal dystrophy, Achromatopsia
Health Risk
RS117806701
Conflicting classifications of pathogenicity
Severe early-childhood-onset retinal dystrophy, Achromatopsia, Achromatopsia 3
Health Risk
RS1178528306
Conflicting classifications of pathogenicity
Achromatopsia 3, Achromatopsia 3
Health Risk
RS1189928623
Conflicting classifications of pathogenicity
Achromatopsia 3, Achromatopsia 3
Health Risk
RS1200686449
Conflicting classifications of pathogenicity
Health Risk
RS138320784
Conflicting classifications of pathogenicity
Severe early-childhood-onset retinal dystrophy, Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
Health Risk
RS139207764
Conflicting classifications of pathogenicity
Achromatopsia 3, Achromatopsia, Retinal dystrophy
Health Risk
RS139337746
Conflicting classifications of pathogenicity
Achromatopsia 3, Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
Health Risk
RS140286824
Conflicting classifications of pathogenicity
Achromatopsia 3, Achromatopsia, Severe early-childhood-onset retinal dystrophy
Health Risk
RS141934736
Conflicting classifications of pathogenicity
Severe early-childhood-onset retinal dystrophy, Achromatopsia, Achromatopsia 3
Health Risk
RS142846289
Conflicting classifications of pathogenicity
Severe early-childhood-onset retinal dystrophy, Achromatopsia 3, Achromatopsia
Health Risk
All Variants (261)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057517052 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1057517053 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1057517167 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1057517388 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1057517454 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1064796793 | Health Risk | Likely pathogenic | — |
| RS1174949911 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1233466909 | Health Risk | Likely pathogenic | Achromatopsia, Achromatopsia |
| RS1348982172 | Health Risk | Likely pathogenic | — |
| RS1371310644 | Health Risk | Likely pathogenic | — |
| RS1380940215 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1432404353 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1440619177 | Health Risk | Likely pathogenic | — |
| RS1554604767 | Health Risk | Likely pathogenic | Achromatopsia 3, Macular dystrophy, Achromatopsia 3 |
| RS1554604833 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1554604851 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1554607553 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1554609943 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1554609978 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1554612159 | Health Risk | Likely pathogenic | Achromatopsia 3, Retinal dystrophy, Achromatopsia 3 |
| RS1554614402 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1554619303 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia, Achromatopsia 3 |
| RS1554619513 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1554619514 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1585942791 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1821713775 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS1823261546 | Health Risk | Likely pathogenic | — |
| RS1823456874 | Health Risk | Likely pathogenic | — |
| RS1825065987 | Health Risk | Likely pathogenic | — |
| RS2131618846 | Health Risk | Likely pathogenic | — |
| RS2538025130 | Health Risk | Likely pathogenic | — |
| RS2538027505 | Health Risk | Likely pathogenic | — |
| RS2538028854 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS2538064552 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS2538079442 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS2538082411 | Health Risk | Likely pathogenic | — |
| RS2538082676 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS2538086728 | Health Risk | Likely pathogenic | — |
| RS2538098961 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS2538099860 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS2538099917 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS2538099930 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS2538099980 | Health Risk | Likely pathogenic | — |
| RS2538102257 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS2538108657 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS2538125004 | Health Risk | Likely pathogenic | — |
| RS2538126079 | Health Risk | Likely pathogenic | — |
| RS2538181864 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |
| RS2538181962 | Health Risk | Likely pathogenic | — |
| RS2538196058 | Health Risk | Likely pathogenic | Achromatopsia 3, Achromatopsia 3 |