CDHR1 Chromosome 10
Cadherin related family member 1
Upload your DNA to see your personal genotypes for variants in CDHR1.
What This Gene Does
This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
Cadherin related
Locus Type
gene with protein product
Location
10q23.1
Ensembl
ENSG00000148600
Associated Conditions (21)
Cone-rod dystrophy 15
Retinal dystrophy
CDHR1-related disorder
Inborn genetic diseases
Retinitis pigmentosa
Macular dystrophy
retinal
5
Retinitis pigmentosa 65
Optic atrophy
Colon adenocarcinoma
Colorectal cancer
Gastric cancer
Papillary renal cell carcinoma type 1
Melanoma
Malignant tumor of urinary bladder
Familial cancer of breast
Hepatocellular carcinoma
Cone-rod dystrophy
Leber congenital amaurosis
+1 more conditions
Key Variants
RS112631930
Conflicting classifications of pathogenicity
Cone-rod dystrophy 15, Retinal dystrophy, Cone-rod dystrophy 15
Health Risk
RS114754869
Conflicting classifications of pathogenicity
CDHR1-related disorder, Inborn genetic diseases, CDHR1-related disorder
Health Risk
RS115388824
Conflicting classifications of pathogenicity
CDHR1-related disorder, Inborn genetic diseases, CDHR1-related disorder
Health Risk
RS137876961
Conflicting classifications of pathogenicity
Cone-rod dystrophy 15, Retinal dystrophy, Cone-rod dystrophy 15
Health Risk
RS138182270
Conflicting classifications of pathogenicity
Cone-rod dystrophy 15, CDHR1-related disorder, Cone-rod dystrophy 15
Health Risk
RS138638103
Conflicting classifications of pathogenicity
Cone-rod dystrophy 15, Inborn genetic diseases, Cone-rod dystrophy 15
Health Risk
RS139302633
Conflicting classifications of pathogenicity
Cone-rod dystrophy 15, Cone-rod dystrophy 15
Health Risk
RS140621272
Conflicting classifications of pathogenicity
Cone-rod dystrophy 15, Inborn genetic diseases, CDHR1-related disorder
Health Risk
RS141173656
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS141250715
Conflicting classifications of pathogenicity
Cone-rod dystrophy 15, Cone-rod dystrophy 15
Health Risk
RS141706561
Conflicting classifications of pathogenicity
Cone-rod dystrophy 15, Retinal dystrophy, Cone-rod dystrophy 15
Health Risk
RS141787212
Conflicting classifications of pathogenicity
Cone-rod dystrophy 15, Cone-rod dystrophy 15
Health Risk
All Variants (137)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2132795062 | Health Risk | Pathogenic | — |
| RS2132803759 | Health Risk | Pathogenic | — |
| RS2132836781 | Health Risk | Pathogenic | — |
| RS2492460629 | Health Risk | Pathogenic | — |
| RS2492479034 | Health Risk | Pathogenic | — |
| RS2492486201 | Health Risk | Pathogenic | — |
| RS2492505234 | Health Risk | Pathogenic | — |
| RS2492519684 | Health Risk | Pathogenic | — |
| RS2492522751 | Health Risk | Pathogenic | — |
| RS2492523185 | Health Risk | Pathogenic | — |
| RS2492531858 | Health Risk | Pathogenic | — |
| RS2492538753 | Health Risk | Pathogenic | — |
| RS2492539063 | Health Risk | Pathogenic | — |
| RS2492539185 | Health Risk | Pathogenic | — |
| RS2492544570 | Health Risk | Pathogenic | — |
| RS2492544964 | Health Risk | Pathogenic | — |
| RS2492548156 | Health Risk | Pathogenic | — |
| RS373412516 | Health Risk | Pathogenic | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS373978786 | Health Risk | Pathogenic | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS547812313 | Health Risk | Pathogenic | — |
| RS747425652 | Health Risk | Pathogenic | Retinitis pigmentosa 65, Retinal dystrophy, Retinitis pigmentosa 65 |
| RS74902839 | Health Risk | Pathogenic | — |
| RS749438546 | Health Risk | Pathogenic | — |
| RS749926328 | Health Risk | Pathogenic | — |
| RS756678484 | Health Risk | Pathogenic | Retinitis pigmentosa 65, Retinal dystrophy, Cone-rod dystrophy 15 |
| RS767366723 | Health Risk | Pathogenic | Cone-rod dystrophy, Cone-rod dystrophy 15, Retinal dystrophy |
| RS769081286 | Health Risk | Pathogenic | — |
| RS781781440 | Health Risk | Pathogenic | Cone-rod dystrophy 15, Leber congenital amaurosis, Retinitis pigmentosa |
| RS794726954 | Health Risk | Pathogenic | Cone-rod dystrophy 15, Retinitis pigmentosa, Retinal dystrophy |
| RS867166472 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS142980820 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy, Cone-rod dystrophy |
| RS2492497251 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS750895925 | Health Risk | Pathogenic/Likely pathogenic | CDHR1-related disorder, CDHR1-related disorder |
| RS751972593 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS760608593 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS794727197 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Cone dystrophy, Retinal dystrophy |
| RS886041900 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |