Variant (rsID / SNP)

rs794726719

rs794726719 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,909,381. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SCN1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:166909381
Cytoband: 2q24.3
HGVS: NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn)
Allele change: Missense_K225N

Associated conditions / phenotypes

Severe myoclonic epilepsy in infancy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.