CDHR1 Chromosome 10
Cadherin related family member 1
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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 |
|---|---|---|---|
| RS112631930 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Retinal dystrophy, Cone-rod dystrophy 15 |
| RS114754869 | Health Risk | Conflicting classifications of pathogenicity | CDHR1-related disorder, Inborn genetic diseases, CDHR1-related disorder |
| RS115388824 | Health Risk | Conflicting classifications of pathogenicity | CDHR1-related disorder, Inborn genetic diseases, CDHR1-related disorder |
| RS137876961 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Retinal dystrophy, Cone-rod dystrophy 15 |
| RS138182270 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, CDHR1-related disorder, Cone-rod dystrophy 15 |
| RS138638103 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Inborn genetic diseases, Cone-rod dystrophy 15 |
| RS139302633 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS140621272 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Inborn genetic diseases, CDHR1-related disorder |
| RS141173656 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS141250715 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS141706561 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Retinal dystrophy, Cone-rod dystrophy 15 |
| RS141787212 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS142109115 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS144058677 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Inborn genetic diseases, CDHR1-related disorder |
| RS145353541 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Retinal dystrophy, Cone-rod dystrophy 15 |
| RS146547564 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146588811 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS146783539 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS147346345 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Retinal dystrophy, Retinitis pigmentosa |
| RS147420731 | Health Risk | Conflicting classifications of pathogenicity | CDHR1-related disorder, CDHR1-related disorder |
| RS147726523 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147920893 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS148356887 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Retinal dystrophy, Cone-rod dystrophy 15 |
| RS149043166 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, CDHR1-related disorder, Inborn genetic diseases |
| RS149181127 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS150097621 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS150577739 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS150969538 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS1564666557 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Cone-rod dystrophy 15, Retinal dystrophy |
| RS190906755 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, CDHR1-related disorder, Cone-rod dystrophy 15 |
| RS193142630 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS199567321 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Retinal dystrophy, Cone-rod dystrophy 15 |
| RS199721776 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS201940855 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS373373894 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS376451005 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS531420059 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS532268197 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Optic atrophy, Inborn genetic diseases |
| RS542195636 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, CDHR1-related disorder, Cone-rod dystrophy 15 |
| RS543254581 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS574920135 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS745955360 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS746501731 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Cone-rod dystrophy 15, Retinal dystrophy |
| RS747960015 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748412274 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS74903725 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, CDHR1-related disorder, Cone-rod dystrophy 15 |
| RS749657135 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Inborn genetic diseases, CDHR1-related disorder |
| RS754321329 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754726772 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS756095042 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Inborn genetic diseases, Cone-rod dystrophy 15 |