Variant (rsID / SNP)
rs121918817
rs121918817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,901,590. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SCN1AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:166901590
- Cytoband
- 2q24.3
- HGVS
- NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
- Allele change
- Missense_R542Q
Associated conditions / phenotypes
Autism|Early infantile epileptic encephalopathy with suppression bursts|Severe myoclonic epilepsy in infancy|Epilepsy|Childhood epilepsy with centrotemporal spikes|History of neurodevelopmental disorder|Severe myoclonic epilepsy in infancy|Migraine, familial hemiplegic, 3|Intellectual disability
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.