Variant (rsID / SNP)
rs121917956
rs121917956 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,848,003. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SCN1ABenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:166848003
- Cytoband
- 2q24.3
- HGVS
- NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)
- Allele change
- Silent
Associated conditions / phenotypes
Migraine, familial hemiplegic, 3|Epilepsy|History of neurodevelopmental disorder|Severe myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Generalized epilepsy with febrile seizures plus, type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.