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 |
|---|---|---|---|
| RS760942217 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy, Cone-rod dystrophy 15, Cone-rod dystrophy |
| RS768106524 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS778340853 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS886047327 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS994272082 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1464226905 | Health Risk | Likely pathogenic | — |
| RS1554857529 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1842129715 | Health Risk | Likely pathogenic | — |
| RS1842189258 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1842216995 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Cone-rod dystrophy 15, Macular dystrophy |
| RS1842324166 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2132782773 | Health Risk | Likely pathogenic | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS2132807272 | Health Risk | Likely pathogenic | — |
| RS2132820982 | Health Risk | Likely pathogenic | — |
| RS2132833489 | Health Risk | Likely pathogenic | — |
| RS2492505338 | Health Risk | Likely pathogenic | — |
| RS2492539884 | Health Risk | Likely pathogenic | — |
| RS2492548014 | Health Risk | Likely pathogenic | — |
| RS547198427 | Health Risk | Likely pathogenic | Retinal dystrophy, CDHR1-related disorder, Retinal dystrophy |
| RS763399323 | Health Risk | Likely pathogenic | — |
| RS763740152 | Health Risk | Likely pathogenic | — |
| RS773704365 | Health Risk | Likely pathogenic | — |
| RS777305743 | Health Risk | Likely pathogenic | — |
| RS786205459 | Health Risk | Likely pathogenic | — |
| RS786205613 | Health Risk | Likely pathogenic | — |
| RS878853347 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS886044648 | Health Risk | Likely pathogenic | — |
| RS916319156 | Health Risk | Likely pathogenic | — |
| RS1183979115 | Health Risk | Pathogenic | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS1220602138 | Health Risk | Pathogenic | — |
| RS1257781536 | Health Risk | Pathogenic | Retinitis pigmentosa 65, Retinitis pigmentosa 65 |
| RS1274804688 | Health Risk | Pathogenic | — |
| RS1340364290 | Health Risk | Pathogenic | — |
| RS1343744787 | Health Risk | Pathogenic | — |
| RS1346965647 | Health Risk | Pathogenic | Cone-rod dystrophy 15, Retinal dystrophy, Cone-rod dystrophy 15 |
| RS1395276529 | Health Risk | Pathogenic | Retinitis pigmentosa 65, Retinitis pigmentosa 65 |
| RS1446751435 | Health Risk | Pathogenic | Macular dystrophy, retinal, 5 |
| RS1461691786 | Health Risk | Pathogenic | — |
| RS1477733493 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1480934668 | Health Risk | Pathogenic | — |
| RS1486109432 | Health Risk | Pathogenic | — |
| RS1589306127 | Health Risk | Pathogenic | Cone-rod dystrophy, Cone-rod dystrophy |
| RS1589307705 | Health Risk | Pathogenic | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS1589313739 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1842014834 | Health Risk | Pathogenic | — |
| RS1842160172 | Health Risk | Pathogenic | — |
| RS1842277745 | Health Risk | Pathogenic | — |
| RS1842370188 | Health Risk | Pathogenic | — |
| RS1842385241 | Health Risk | Pathogenic | Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS191858417 | Health Risk | Pathogenic | — |