Gene entry
CCDC107
coiled-coil domain containing 107
- Chromosome
- 9
- Cytoband
- 9p13.3
- Variants (rsID)
- 2
CCDC107 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9p13.3). Its official name is “coiled-coil domain containing 107”. The reference table lists 2 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs199476103Pathogenicsingle nucleotide variantMetaphyseal dysplasia without hypotrichosis|Metaphyseal chondrodysplasia, McKusick type|Anauxetic dysplasia|Metaphyseal dysplasia without hypotrichosis|Metaphyseal chondrodysplasia, McKusick type|Anauxetic dysplasia 1
- rs1339374Not classifiedmissense_variant
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.