PDE6C Chromosome 10
Phosphodiesterase 6C
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What This Gene Does
This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Phosphodiesterases
Locus Type
gene with protein product
Location
10q23.33
Ensembl
ENSG00000095464
Associated Conditions (9)
Achromatopsia
Cone dystrophy 4
Retinal dystrophy
PDE6C-related disorder
Inborn genetic diseases
Achromatopsia 5
Cone dystrophy
Abnormality of the eye
Isolated macular dystrophy
Key Variants
RS1051926
Conflicting classifications of pathogenicity
Achromatopsia, Cone dystrophy 4, Achromatopsia
Health Risk
RS1064797148
Conflicting classifications of pathogenicity
Achromatopsia, Retinal dystrophy, Achromatopsia
Health Risk
RS1131978
Conflicting classifications of pathogenicity
Achromatopsia, Cone dystrophy 4, Achromatopsia
Health Risk
RS138970846
Conflicting classifications of pathogenicity
Cone dystrophy 4, Achromatopsia, Cone dystrophy 4
Health Risk
RS139456217
Conflicting classifications of pathogenicity
Cone dystrophy 4, Achromatopsia, PDE6C-related disorder
Health Risk
RS139638257
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139652451
Conflicting classifications of pathogenicity
Cone dystrophy 4, Achromatopsia, Cone dystrophy 4
Health Risk
RS140469169
Conflicting classifications of pathogenicity
PDE6C-related disorder, PDE6C-related disorder
Health Risk
RS140524715
Conflicting classifications of pathogenicity
Achromatopsia, Cone dystrophy 4, PDE6C-related disorder
Health Risk
RS142876079
Conflicting classifications of pathogenicity
Cone dystrophy 4, Achromatopsia, Inborn genetic diseases
Health Risk
RS145591492
Conflicting classifications of pathogenicity
Achromatopsia, Cone dystrophy 4, Achromatopsia
Health Risk
RS145836229
Conflicting classifications of pathogenicity
Achromatopsia, Cone dystrophy 4, Achromatopsia
Health Risk
All Variants (128)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1461895191 | Health Risk | Likely pathogenic | — |
| RS150008081 | Health Risk | Likely pathogenic | — |
| RS1554888858 | Health Risk | Likely pathogenic | Achromatopsia, Achromatopsia |
| RS1554888861 | Health Risk | Likely pathogenic | Achromatopsia, Achromatopsia |
| RS1554890513 | Health Risk | Likely pathogenic | Achromatopsia, Achromatopsia |
| RS1564801134 | Health Risk | Likely pathogenic | Cone dystrophy 4, Cone dystrophy 4 |
| RS1589693002 | Health Risk | Likely pathogenic | Cone dystrophy, Cone dystrophy |
| RS2058399145 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2058440863 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2058673701 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2133879295 | Health Risk | Likely pathogenic | — |
| RS2134611976 | Health Risk | Likely pathogenic | Abnormality of the eye, Abnormality of the eye |
| RS2492563568 | Health Risk | Likely pathogenic | — |
| RS746820022 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS748592523 | Health Risk | Likely pathogenic | — |
| RS766703340 | Health Risk | Likely pathogenic | Achromatopsia, Achromatopsia |
| RS779718367 | Health Risk | Likely pathogenic | — |
| RS786205463 | Health Risk | Likely pathogenic | — |
| RS863224908 | Health Risk | Likely pathogenic | Cone dystrophy 4, Cone dystrophy 4 |
| RS1012765041 | Health Risk | Pathogenic | — |
| RS1180015498 | Health Risk | Pathogenic | — |
| RS1195882977 | Health Risk | Pathogenic | — |
| RS121918538 | Health Risk | Pathogenic | Achromatopsia 5, Achromatopsia 5 |
| RS121918539 | Health Risk | Pathogenic | Achromatopsia 5, Achromatopsia 5 |
| RS1370683336 | Health Risk | Pathogenic | — |
| RS1441591017 | Health Risk | Pathogenic | — |
| RS1554888353 | Health Risk | Pathogenic | Achromatopsia, Achromatopsia |
| RS1554888848 | Health Risk | Pathogenic | Achromatopsia, Achromatopsia |
| RS1554888978 | Health Risk | Pathogenic | Achromatopsia, Achromatopsia |
| RS1564802738 | Health Risk | Pathogenic | — |
| RS1589690942 | Health Risk | Pathogenic | Cone dystrophy 4, Cone dystrophy 4 |
| RS1589704707 | Health Risk | Pathogenic | Cone dystrophy 4, Cone dystrophy 4 |
| RS1589705946 | Health Risk | Pathogenic | Cone dystrophy 4, Cone dystrophy 4 |
| RS2058524059 | Health Risk | Pathogenic | — |
| RS2058536729 | Health Risk | Pathogenic | — |
| RS2058551505 | Health Risk | Pathogenic | — |
| RS2058653940 | Health Risk | Pathogenic | — |
| RS2133877207 | Health Risk | Pathogenic | — |
| RS2133879710 | Health Risk | Pathogenic | — |
| RS2134617509 | Health Risk | Pathogenic | — |
| RS2492492313 | Health Risk | Pathogenic | — |
| RS2492492590 | Health Risk | Pathogenic | Cone dystrophy 4, Cone dystrophy 4 |
| RS2492504772 | Health Risk | Pathogenic | — |
| RS2492506474 | Health Risk | Pathogenic | — |
| RS2492526210 | Health Risk | Pathogenic | — |
| RS2492534156 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2492571833 | Health Risk | Pathogenic | Isolated macular dystrophy, Isolated macular dystrophy |
| RS267606934 | Health Risk | Pathogenic | Achromatopsia 5, Achromatopsia 5 |
| RS267606935 | Health Risk | Pathogenic | Achromatopsia 5, Achromatopsia 5 |
| RS267606936 | Health Risk | Pathogenic | Achromatopsia 5, Achromatopsia 5 |