Variant (rsID / SNP)
rs121918624
rs121918624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,909,392. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SCN1APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:166909392
- Cytoband
- 2q24.3
- HGVS
- NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
- Allele change
- Nonsense_R222X
Associated conditions / phenotypes
Severe myoclonic epilepsy in infancy|History of neurodevelopmental disorder|Severe myoclonic epilepsy in infancy|Migraine, familial hemiplegic, 3|Generalized epilepsy with febrile seizures plus, type 2|Early infantile epileptic encephalopathy with suppression bursts|Intellectual disability
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.