CDH15 Chromosome 16
Cadherin 15
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What This Gene Does
This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Type I classical cadherins
Locus Type
gene with protein product
Location
16q24.3
Ensembl
ENSG00000129910
Associated Conditions (5)
Intellectual disability
autosomal dominant 3
Neurofibromatosis
type 1
CDH15-related disorder
Key Variants
RS137923863
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 3, Intellectual disability
Health Risk
RS138572161
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS141084668
Conflicting classifications of pathogenicity
Health Risk
RS146594802
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 3, Intellectual disability
Health Risk
RS147397532
Conflicting classifications of pathogenicity
Health Risk
RS150599325
Conflicting classifications of pathogenicity
Intellectual disability, Neurofibromatosis, type 1
Health Risk
RS191491461
Conflicting classifications of pathogenicity
Health Risk
RS199879102
Conflicting classifications of pathogenicity
Health Risk
RS200026741
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS367770505
Conflicting classifications of pathogenicity
CDH15-related disorder, CDH15-related disorder
Health Risk
RS370967218
Conflicting classifications of pathogenicity
Health Risk
RS374288437
Conflicting classifications of pathogenicity
CDH15-related disorder, Intellectual disability, CDH15-related disorder
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137923863 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 3, Intellectual disability |
| RS138572161 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS141084668 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146594802 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 3, Intellectual disability |
| RS147397532 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150599325 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Neurofibromatosis, type 1 |
| RS191491461 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199879102 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200026741 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS367770505 | Health Risk | Conflicting classifications of pathogenicity | CDH15-related disorder, CDH15-related disorder |
| RS370967218 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374288437 | Health Risk | Conflicting classifications of pathogenicity | CDH15-related disorder, Intellectual disability, CDH15-related disorder |
| RS376583874 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS772842256 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779397293 | Health Risk | Conflicting classifications of pathogenicity | — |