Gene entry
CCDC78
coiled-coil domain containing 78
- Chromosome
- 16
- Cytoband
- 16p13.3
- Variants (rsID)
- 4
CCDC78 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p13.3). Its official name is “coiled-coil domain containing 78”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs142136104Benignsingle nucleotide variantCongenital myopathy with internal nuclei and atypical cores
- rs148276717Benignsingle nucleotide variantCongenital myopathy with internal nuclei and atypical cores
- rs140761899Likely benignsingle nucleotide variantCongenital myopathy with internal nuclei and atypical cores
- rs146067716Likely benignsingle nucleotide variantCongenital myopathy with internal nuclei and atypical cores
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.