Variant (rsID / SNP)
rs267608420
rs267608420 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKL5. Clinical significance in the table: Pathogenic.
Reference-table entries
CDKL5Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Cytoband
- Xp22.13
- HGVS
- NM_003159.2(CDKL5):c.65dupG
Associated conditions / phenotypes
Developmental and epileptic encephalopathy, 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.