DCHS1 Chromosome 11
Dachsous cadherin-related 1
Upload your DNA to see your personal genotypes for variants in DCHS1.
What This Gene Does
This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cadherin related
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000166341
Associated Conditions (9)
Inborn genetic diseases
DCHS1-related disorder
Van Maldergem syndrome 1
Malignant tumor of urinary bladder
Congenital heart disease
Familial cancer of breast
Ovarian serous cystadenocarcinoma
Mitral valve prolapse
myxomatous 2
Key Variants
RS111515657
Conflicting classifications of pathogenicity
Inborn genetic diseases, DCHS1-related disorder, Inborn genetic diseases
Health Risk
RS112402535
Conflicting classifications of pathogenicity
Health Risk
RS117390152
Conflicting classifications of pathogenicity
DCHS1-related disorder, DCHS1-related disorder
Health Risk
RS1181017104
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139297616
Conflicting classifications of pathogenicity
Health Risk
RS139849372
Conflicting classifications of pathogenicity
Inborn genetic diseases, DCHS1-related disorder, Inborn genetic diseases
Health Risk
RS140729879
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140867718
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141243126
Conflicting classifications of pathogenicity
Inborn genetic diseases, DCHS1-related disorder, Inborn genetic diseases
Health Risk
RS141488333
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141850568
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141901540
Conflicting classifications of pathogenicity
Inborn genetic diseases, DCHS1-related disorder, Inborn genetic diseases
Health Risk
All Variants (105)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201094018 | Health Risk | Conflicting classifications of pathogenicity | DCHS1-related disorder, Inborn genetic diseases, DCHS1-related disorder |
| RS2493809648 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368211314 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Van Maldergem syndrome 1, Mitral valve prolapse |
| RS369091875 | Health Risk | Conflicting classifications of pathogenicity | Van Maldergem syndrome 1, Van Maldergem syndrome 1 |
| RS370161556 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372494965 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372790303 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372952479 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373185353 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373478460 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, DCHS1-related disorder, Inborn genetic diseases |
| RS374282596 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375542420 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS528656024 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS541336434 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS563576751 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS566059806 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS572331982 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61735331 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753184200 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756283165 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758453554 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763176856 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765375271 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770156398 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770172402 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772552501 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775257367 | Health Risk | Conflicting classifications of pathogenicity | Van Maldergem syndrome 1, Van Maldergem syndrome 1 |
| RS775960275 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781099697 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781737138 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS79559386 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, DCHS1-related disorder, Inborn genetic diseases |
| RS1318661642 | Health Risk | Likely pathogenic | Van Maldergem syndrome 1, Van Maldergem syndrome 1 |
| RS1564865337 | Health Risk | Likely pathogenic | — |
| RS1855757730 | Health Risk | Likely pathogenic | — |
| RS2493816487 | Health Risk | Likely pathogenic | — |
| RS2493823249 | Health Risk | Likely pathogenic | — |
| RS775492992 | Health Risk | Likely pathogenic | — |
| RS1040427770 | Health Risk | Pathogenic | — |
| RS1436928058 | Health Risk | Pathogenic | — |
| RS1564864112 | Health Risk | Pathogenic | — |
| RS2134633522 | Health Risk | Pathogenic | — |
| RS2134633746 | Health Risk | Pathogenic | Van Maldergem syndrome 1, Van Maldergem syndrome 1 |
| RS2134634960 | Health Risk | Pathogenic | Van Maldergem syndrome 1, Van Maldergem syndrome 1 |
| RS2134643885 | Health Risk | Pathogenic | — |
| RS2493814875 | Health Risk | Pathogenic | — |
| RS2493819327 | Health Risk | Pathogenic | — |
| RS2493824378 | Health Risk | Pathogenic | — |
| RS2493831760 | Health Risk | Pathogenic | — |
| RS2493839816 | Health Risk | Pathogenic | — |
| RS2493843791 | Health Risk | Pathogenic | Van Maldergem syndrome 1, Van Maldergem syndrome 1 |