Variant (rsID / SNP)
rs796053054
rs796053054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,911,145. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SCN1APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 2:166911145
- Cytoband
- 2q24.3
- HGVS
- NM_001165963.4(SCN1A):c.602+2dup
Associated conditions / phenotypes
Early infantile epileptic encephalopathy with suppression bursts
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.