Gene entry
CCM2
CCM2 scaffold protein
- Chromosome
- 7
- Cytoband
- 7p13
- Variants (rsID)
- 10
CCM2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7p13). Its official name is “CCM2 scaffold protein”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs2289367Benignsingle nucleotide variantCerebral cavernous malformation 2
- rs200358025Conflicting interpretationssingle nucleotide variantCerebral cavernous malformation 2
- rs137852841Pathogenicsingle nucleotide variantCerebral cavernous malformation 2
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.