Variant (rsID / SNP)
rs786205214
rs786205214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,897,942. Clinical significance in the table: Pathogenic.
Reference-table entries
SCN1APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:166897942
- Cytoband
- 2q24.3
- HGVS
- NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter)
- Allele change
- Nonsense_W727X
Associated conditions / phenotypes
Generalized epilepsy with febrile seizures plus, type 2|Severe myoclonic epilepsy in infancy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.