Variant (rsID / SNP)

rs121917972

rs121917972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,894,383. Clinical significance in the table: Pathogenic.

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Reference-table entries

SCN1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:166894383
Cytoband: 2q24.3
HGVS: NM_001165963.4(SCN1A):c.2849G>A (p.Gly950Glu)
Allele change: Missense_G939E

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.