RS121917914 SCN1A

Health Risk Chr 2:165992386 snv missense variant
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What This Variant Does
"CLNSIG=1
Associated Conditions
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus
type 2
Early-infantile DEE
Early-infantile DEE
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus
type 2
Early-infantile DEE
Early-infantile DEE
Population Frequencies
gnomAD ALL
100%
Other Variants in SCN1A
rs3812718 rs121918622 rs121918623 rs121917953 rs121917954 rs121917955 rs121917930 rs1574272192 rs121918624 rs121918625
Ask Dr. Hemsworth about this variant