Variant (rsID / SNP)
rs121918799
rs121918799 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,872,146. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:166872146
- Cytoband
- 2q24.3
- HGVS
- NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
- Allele change
- Silent
Associated conditions / phenotypes
Migraine, familial hemiplegic, 3|Epilepsy|Generalized tonic-clonic seizures|Generalized non-motor (absence) seizure|Seizure|Childhood epilepsy with centrotemporal spikes|History of neurodevelopmental disorder|Severe myoclonic epilepsy in infancy|Generalized epilepsy with febrile seizures plus, type 2|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.