CCDC8 Chromosome 19
Coiled-coil domain containing 8 subunit of 3M complex
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What This Gene Does
This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|3M complex subunits"
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000169515
Associated Conditions (3)
CCDC8-related disorder
Inborn genetic diseases
3M syndrome 3
Key Variants
RS140574202
Conflicting classifications of pathogenicity
CCDC8-related disorder, Inborn genetic diseases, CCDC8-related disorder
Health Risk
RS145184332
Conflicting classifications of pathogenicity
CCDC8-related disorder, Inborn genetic diseases, CCDC8-related disorder
Health Risk
RS200189331
Conflicting classifications of pathogenicity
3M syndrome 3, CCDC8-related disorder, 3M syndrome 3
Health Risk
RS201827579
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2513603113
Conflicting classifications of pathogenicity
3M syndrome 3, 3M syndrome 3
Health Risk
RS559473497
Conflicting classifications of pathogenicity
3M syndrome 3, 3M syndrome 3
Health Risk
RS567845896
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS745566147
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS774464372
Conflicting classifications of pathogenicity
3M syndrome 3, 3M syndrome 3
Health Risk
RS1973237748
Likely pathogenic
3M syndrome 3, 3M syndrome 3
Health Risk
RS1973248576
Likely pathogenic
3M syndrome 3, 3M syndrome 3
Health Risk
RS2513602574
Likely pathogenic
3M syndrome 3, 3M syndrome 3
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140574202 | Health Risk | Conflicting classifications of pathogenicity | CCDC8-related disorder, Inborn genetic diseases, CCDC8-related disorder |
| RS145184332 | Health Risk | Conflicting classifications of pathogenicity | CCDC8-related disorder, Inborn genetic diseases, CCDC8-related disorder |
| RS200189331 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 3, CCDC8-related disorder, 3M syndrome 3 |
| RS201827579 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2513603113 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 3, 3M syndrome 3 |
| RS559473497 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 3, 3M syndrome 3 |
| RS567845896 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745566147 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774464372 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 3, 3M syndrome 3 |
| RS1973237748 | Health Risk | Likely pathogenic | 3M syndrome 3, 3M syndrome 3 |
| RS1973248576 | Health Risk | Likely pathogenic | 3M syndrome 3, 3M syndrome 3 |
| RS2513602574 | Health Risk | Likely pathogenic | 3M syndrome 3, 3M syndrome 3 |
| RS746873023 | Health Risk | Likely pathogenic | 3M syndrome 3, 3M syndrome 3 |
| RS752254407 | Health Risk | Likely pathogenic | 3M syndrome 3, 3M syndrome 3 |
| RS1568590155 | Health Risk | Pathogenic | 3M syndrome 3, 3M syndrome 3 |