Variant (rsID / SNP)
rs2289367
rs2289367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCM2. Location: chromosome 7, position 45,113,170. Clinical significance in the table: Benign.
Reference-table entries
CCM2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:45113170
- Cytoband
- 7p13
- HGVS
- NM_031443.4(CCM2):c.915G>A (p.Thr305=)
- Allele change
- Silent
Associated conditions / phenotypes
Cerebral cavernous malformation 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.