Variant (rsID / SNP)
rs570862962
rs570862962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,870,244. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SCN1AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Deletion
- Chromosome / position
- 2:166870244
- Cytoband
- 2q24.3
- HGVS
- NM_001165963.4(SCN1A):c.3705+10del
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.