DLL3 Chromosome 19
Delta like canonical Notch ligand 3
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What This Gene Does
This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Canonical Notch ligands
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000090932
Associated Conditions (7)
Syndactyly
Spondylocostal dysostosis 1
autosomal recessive
Inborn genetic diseases
DLL3-related disorder
Hemivertebrae
Rib fusion
Key Variants
RS1013696397
Conflicting classifications of pathogenicity
Health Risk
RS138378695
Conflicting classifications of pathogenicity
Syndactyly, Spondylocostal dysostosis 1, autosomal recessive
Health Risk
RS139297205
Conflicting classifications of pathogenicity
Syndactyly, Spondylocostal dysostosis 1, autosomal recessive
Health Risk
RS139638161
Conflicting classifications of pathogenicity
Syndactyly, Spondylocostal dysostosis 1, autosomal recessive
Health Risk
RS145191532
Conflicting classifications of pathogenicity
Syndactyly, Spondylocostal dysostosis 1, autosomal recessive
Health Risk
RS147582946
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 1, autosomal recessive, Syndactyly
Health Risk
RS150100958
Conflicting classifications of pathogenicity
Syndactyly, Spondylocostal dysostosis 1, autosomal recessive
Health Risk
RS200988915
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 1, autosomal recessive, Syndactyly
Health Risk
RS201902809
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 1, autosomal recessive, Syndactyly
Health Risk
RS2079653502
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 1, autosomal recessive, Syndactyly
Health Risk
RS372702131
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 1, autosomal recessive, Spondylocostal dysostosis 1
Health Risk
RS373253569
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS761454301 | Health Risk | Pathogenic | Spondylocostal dysostosis 1, autosomal recessive, Spondylocostal dysostosis 1 |
| RS770329421 | Health Risk | Pathogenic | — |
| RS770966935 | Health Risk | Pathogenic | — |
| RS776960175 | Health Risk | Pathogenic | — |
| RS777791545 | Health Risk | Pathogenic | Spondylocostal dysostosis 1, autosomal recessive, Spondylocostal dysostosis 1 |
| RS786200902 | Health Risk | Pathogenic | Spondylocostal dysostosis 1, autosomal recessive, Spondylocostal dysostosis 1 |
| RS786200903 | Health Risk | Pathogenic | Spondylocostal dysostosis 1, autosomal recessive, Spondylocostal dysostosis 1 |
| RS104894676 | Health Risk | Pathogenic/Likely pathogenic | Spondylocostal dysostosis 1, autosomal recessive, Spondylocostal dysostosis 1 |
| RS1452482256 | Health Risk | Pathogenic/Likely pathogenic | DLL3-related disorder, DLL3-related disorder |
| RS2079604821 | Health Risk | Pathogenic/Likely pathogenic | Spondylocostal dysostosis 1, autosomal recessive, Spondylocostal dysostosis 1 |
| RS752277223 | Health Risk | Pathogenic/Likely pathogenic | Spondylocostal dysostosis 1, autosomal recessive, Spondylocostal dysostosis 1 |
| RS771875570 | Health Risk | Pathogenic/Likely pathogenic | Spondylocostal dysostosis 1, autosomal recessive, Spondylocostal dysostosis 1 |
| RS786200900 | Health Risk | Pathogenic/Likely pathogenic | Spondylocostal dysostosis 1, autosomal recessive, Spondylocostal dysostosis 1 |
| RS786205519 | Health Risk | Pathogenic/Likely pathogenic | Spondylocostal dysostosis 1, autosomal recessive, Spondylocostal dysostosis 1 |